Angelina's Impact: Genetic Counselors Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below genetic counselors reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina Jolie’s disclosure of her BRCA1 mutation and subsequent risk reducing surgeries launched a thoughtful national discussion about genetic counseling and testing that no public service announcement could have accomplished. As a result, many women who otherwise might not have pursued testing did so, and for those who tested positive, the information may have been lifesaving. The reaction to Jolie’s announcement in combination with the Supreme Court’s holding against gene patenting and the subsequent drop in BRCA testing costs have contributed to a provocative debate about whether the time is right to offer population screening for hereditary breast/ovarian cancer.
— Beth N. Peshkin, MS, CGC, Professor of Oncology, Georgetown Lombardi Comprehensive Cancer Center
Angelina Jolie’s disclosure of her BRCA+ status seems to have increased awareness of BRCA-related breast and ovarian cancer specifically and of the availability of genetic testing for hereditary cancer susceptibility in general. The media coverage of her story led to an increase in self-referred patients to our cancer genetic counseling clinic, some citing her story specifically. Ms. Jolie’s disclosure of her medical management decisions after her positive test result also increased awareness of prophylactic surgery options, followed by strong reactions from some patients: “If I were BRCA+, I would definitely/never do what Angelia Jolie did.”
— Meagan Farmer, MS, CGC Cancer Genetic Counseling Director, UAB Department of Genetics
Angelina Jolie’s disclosure of her BRCA+ status has provided a reference frame and initiated a discussion about cancer genetic testing and prevention in a way that hadn’t been done previously. Her candid sharing in the mainstream media allowed for a glimpse into the complexity of addressing hereditary cancer risk and put genetic counseling in the spotlight. I think genetic counselors universally agree with her: “knowledge is power.”
— Leigha Senter-Jamieson, MS, LGC, Associate Professor, Clinical, The Ohio State University
Angelina Jolie’s disclosure of her BRCA status helped to revive the very important conversation between patients and primary care providers regarding family history. Subsequently, a larger volume of patients and providers are referring to cancer genetic counselors who are experts in the areas of discussing appropriate genetic testing options and the risks and management associated with high risk hereditary cancer syndromes. Ms. Jolie’s willingness to speak openly on this topic has given strength to individuals with a personal and/or family history of cancer to seek out information regarding genetic counseling and testing and we hope that these conversations continue in the future.
— Marjan Champine, MS, CGC, Clinical Lead Genetic Counselor, Huntsman Cancer Institute, Salt Lake City, UT
Angelina Jolie’s editorial sparked an important nationwide conversation about hereditary cancers. Fuel was added just a few weeks later when The Supreme Court ruled to overturn patents on the BRCA genes. The combined news attention of these events turned the BRCA genes into household names and drove the demand for genetic counseling and testing skyward. As the options for consumers to pursue genetic testing continue to grow, the field of genetic counseling is transforming to meet these needs. New ways to access critical genetic information are now available through telemedicine and digital genetic counseling tools.
— Danielle Bonadies, MS, CGC, Director of Cancer Genetics, My Gene Counsel, @dcBonadies



Photo Credit: Foreign and Commonwealth Office via Flickr

Angelina's Impact: Advocates Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below advocates reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina’s efforts have done a great deal to raise awareness for genetic testing. As an advocate for those with hereditary cancer syndromes, I see the negative effects of genetic testing without certified genetic counseling every single day. “Knowledge is only power” when people truly understand their risks and have the resources to take action — unfortunately for many people, this is simply not case.
— Georgia M. Hurst @SheWithLynch (501c3)
Prevention is priceless. In Angelina Jolie’s very own words, “The beautiful thing about such moments in life is that there is so much clarity. You know what you live for and what matters. It is polarizing, and it is peaceful.” #geneticcounseling #hereditarycancer #genetictesting #savinglives #makingAdifference
— Lisa M Guzzardi @LGuzzardiM
I am grateful that Angelina Jolie had the bravery to share her story and start a discussion with the world. Three years later and her impact is still being felt in regards to genetic testing and prophylactic surgeries. Kudos to her.
— Karen Lazarovitz @Karenbrcamtl Instagram: @karenlazarovitz_brca
Ms. Jolie’s candid disclosure around her genetic testing results and her personal decision to make proactive choices based on those results, brought the subject of genetic testing into the limelight and triggered important dialogue around education, access, privacy and applicability of genetic screening.
— Stacey Tinianov @coffeemommy
Angelina Jolie’s disclosure ignited worldwide media attention with the primary focus of the media being on her mastectomy and her particular gene mutation, BRCA. The “missed” message from Jolie’s disclosure continues to be my biggest platform in my advocacy efforts: Knowledge from genetic testing is only useful if an individual has had an accurate cancer risk assessment, result interpretation and receives the correct healthcare recommendations. The most qualified person to provide that knowledge is a certified genetic counselor.
— Amy Byer Shainman @BRCAresponder Hereditary Cancer/BRCA Advocate Executive Producer Pink & Blue: Colors of Hereditary Cancer

Photo Credit: Foreign and Commonwealth Office via Flickr

VUS Reclassified to "Suspected Deleterious": When Genetic Counseling Updates Become Life-Saving

 Mary Ellen,   
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    @ L2653PAndMe

Mary Ellen, @L2653PAndMe

Mary Ellen always knew that her family history included cancer.  Her mom was diagnosed with breast cancer in her fifties and died in her sixties.  Early-onset breast cancer, prostate cancer, and possible ovarian cancers were seen in aunts, uncles, and cousins.  So, it was not surprising that Mary Ellen’s sister was referred for genetic counseling and testing by her gynecologist in 2008 based on this family history.  Genetic testing revealed that her sister carried a variant of uncertain significance (VUS) in the BRCA2 gene: basically, a murky result that may or may not have been responsible for the range of cancers observed in the family.  The gynecologist didn’t press the family to gather more family history information or to explore this finding further, so it was back to life as usual – until, 4 years later, when that VUS was reclassified as ‘suspected deleterious’.

Mary Ellen’s sister immediately sprang into action and saw a genetic counselor. In addition to learning that the BRCA2 variant she carried was a true mutation, she also learned that she, and other unaffected family members who carried this variant, had options to reduce their risks of ever developing cancer.  “Believe it or not, we didn’t even know that prophylactic surgery would be appropriate for us,” explained Mary Ellen.  

Mary Ellen was the next to leap into action.  She saw a genetic counselor, had testing, and opted to have her ovaries and fallopian tubes removed the next month.  “I was healthy, 56 years old, and my vaginal ultrasound was normal.  This was a preventive procedure.”  Or so she thought until her gynecologic oncologist called her on a Saturday night to say that the pathology revealed cancerous cells.  “I didn’t hear one word she said after ‘ovarian cancer,’ Mary Ellen shared.  Two weeks later she had surgery and learned that she had stage IIa ovarian cancer.  Surgery and 5 months of chemotherapy were to follow, and Mary Ellen considers herself very fortunate to be a survivor. 

Fast forward 1.5 years.  After several normal mammograms and breast MRIs, Mary Ellen decided to have her breasts removed preventively.  “It was the best decision for me.”  Once again, this was a preventive procedure.  “The breast surgeon congratulated me on beating cancer, and I thought to myself, ‘She shouldn’t say that until we get the pathology back.’ The pathology revealed that, once again, Mary Ellen already had cancer – this time a ductal carcinoma in situ (DCIS), a stage 0 breast cancer.  

Mary Ellen is alive and well at age 61 and feels very fortunate.  “My advice to others is that if you are considering genetic testing, you should always go to a certified genetic counselor first.  We were lucky.  We received the update and I had my surgeries before my cancers were more advanced.  But had we seen a genetic counselor first, I believe we would have been pushed to gather more family history information.  I also believe we would have learned our options for risk reduction earlier in the process.”

Mary Ellen’s story underlines the need not only for genetic counseling, but for receiving updates on VUS results, and all genetic test results because the field and recommendations are always evolving.  

What You Can Do to Prevent Your Genetic Test Results from Being Misinterpreted

Last week we learned that a 36-year old woman from Oregon had genetic testing and was told that she carried a mutation in a gene called MLH1, that causes Lynch Syndrome.  According to a lawsuit filed by the woman, she was apparently informed that she was at elevated risk to develop cancer and counseled to have her breasts and uterus removed, which she did.  The woman claims, in lawsuit, that she later learned that her test results had been misinterpreted and that she did not carry a disease-causing mutation in the gene.  She apparently carried a variant of uncertain significance (VUS) in the gene, which may have contributed to the confusion. 

This case is upsetting and unsettling --- but it is not surprising.  Why?  My name is Ellen Matloff and I am a certified genetic counselor who has counseled thousands of patients over the past two decades. During that time, as genetic testing became more popular and more clinicians began ordering genetic testing without a certified genetic counselor, we began to see patients whose test results were misinterpreted.  Like this patient, some people had their breasts, ovaries, uterus, even colons removed because their test results were misinterpreted.  Others were diagnosed with cancers, often at late stages, because they were misinformed that their test results were normal.  We saw so many of these cases that we published three papers documenting them, the first of which was published in August of 2010.  Other patients have terminated healthy pregnancies because their genetic test results were misinterpreted.  We see similar problems in cardiac and other types of genetic testing.

Why is this happening?  The field of genetic testing is growing quickly and the average clinician simply cannot keep up.  More and more genes are being added to testing panels and the result interpretation is becoming more complex. 

What can you do to reduce the risk that your genetic test results will be misinterpreted?   This one is simple:  see a certified genetic counselor both before and after you have genetic testing.  Genetic counselors are graduate-trained professionals who specialize in this area.  They will help you to understand the risks, benefits, and limitation of genetic testing, to pick the right laboratory, and to get your insurance company to pay for testing.  After genetic testing, your genetic counselor will help you interpret the results accurately, and will walk you and your family through your options and next steps.

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Isn’t it difficult to get an appointment with a genetic counselor?  No.  This is a fallacy.  The National Society of Genetic Counselors can help you find a counselor near you.  If there are no counselors near you, or the wait time is too long, you may access a counselor via telephone through one of the several companies offering this service.  Many of these companies accept health insurance. 

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Is it really that important to see a certified genetic counselor?  Yes.  As shown by this story, genetic testing can do more harm than good if it’s interpreted incorrectly.  This can impact you, your health, and your entire family.  This problem is so prevalent and the consequences so devastating that I started My Gene Counsel to develop digital tools that reduce the chance that genetic test results are misinterpreted. 

One last note, to the woman featured in this story, “you are not alone.  We are so sorry that this has happened to you and we are committed to reducing the chance that it will happen to others moving forward.” 

Ellen Matloff

CEO, My Gene Counsel

To Have Or Not To Have Genetic Testing?

September and October are Ovarian and Breast Cancer Awareness Months, respectively. Bridging the two months is Hereditary Breast and Ovarian Cancer Week which includes National Previvor Day. 

We asked previvors in the community: what would you like to say to the person on the fence about whether or not to have genetic testing? Here's the advice they offer!

 Photo Credit: Laura Rice

Photo Credit: Laura Rice

Are you a previvor and want to share your advice? Tweet us @MyGeneCounsel or email Ellen at

The National Comprehensive Cancer Network (NCCN) Guidelines Have Updated: Here is What You Need to Know

October 2017

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The National Comprehensive Cancer Network (NCCN) provides guidelines to help determine who should have genetic testing for hereditary cancers and how individuals should be followed after testing. They recently published updates to these guidelines that we’ve summarized below. The full guidelines can be found here. We’ve also previously published a list of risk factors, that if present in your personal or family history, should prompt consideration of seeing a certified genetic counselor.

Here are the additions:

1. Who should have BRCA testing?

a. Any man with a personal history of metastatic prostate cancer is a candidate for BRCA and BRCA2 testing. Metastatic prostate cancer is a cancer that has traveled outside of the prostate. 

b. Anyone found to have a BRCA1/2 mutation in tumor tissue (known as a somatic mutation) from ANY TUMOR TYPE is a candidate for BRCA testing, to learn if this mutation may be in other cells of their body and thus inherited. This addition was made in the December 2016 update to the NCCN guidelines but is worth repeating as it is still relatively new.  

c. Again, please find a full list of risk factors here.

2. I have a BRCA mutation, how should I be followed?

a. Women with BRCA mutations who are being screened for breast cancer should consider MRI as the preferred screening method due to the possible risk of radiation exposure from mammography. 

b. If breast MRI screening is not available or not possible, a mammogram can be done with consideration of tomosynthesis (an advanced type of mammogram sometimes called a 3D mammogram). 

c. For women with a BRCA2 mutation, the guidelines restated that it is reasonable to delay ovary and fallopian tube removal until age 40-45. However, this should be considered carefully in the context of your personal and family history. 

d. For women who have not had their ovaries and fallopian tubes removed, the guidelines revised that screening with transvaginal ultrasound and CA-125 blood marker is of uncertain benefit, but may being at age 30-35.


3. Any other updates?

a. The guidelines for breast cancer screening for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CDH, CHEK2, NBN, NF1 and PALB2 have added that mammogram can be done with consideration of tomosynthesis.

b. Other updates include changes in management for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CHEK2 and NF1 genes. Please see the full document for these details.

c. Patients diagnosed with advanced breast cancer that is HER2-negative AND who are eligible for single-agent chemotherapy are eligible for germline BRCA 1/2 testing.  If BRCA+, they may be a candidate to take a medication called Olaparib (also called Lynparza), a PARP inhibitor that is FDA approved for the treatment of patients with advanced breast cancer and BRCA pathogenic variants.


NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 1.2018

NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Version 4.2017

“But Would YOU Vaccinate YOUR Children for HPV?” One Pediatrician’s Candid Reply

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 Joseph Nimeh, MD, Assistant Professor of Pediatrics, SUNY Upstate Medical

Joseph Nimeh, MD, Assistant Professor of Pediatrics, SUNY Upstate Medical

I’m a pediatrician, but I have absolutely no affiliation with any drug company, and certainly not with one that is marketing this vaccine. Nor do I have any other financial or any other relationship to those marketing and producing and profiting from HPV vaccines. 

Let us state some very well known facts for clarity.

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#1  Cervical cancer typically kills more than 4,000 women every year in the United States. The number is significantly higher if you consider worldwide deaths. 

#2  Women virtually never get cervical cancer unless they have a HPV infection. The virus is the one link that has been shown to cause cervical cancer.  The HPV virus also causes many other types of cancer, including cancer of the head/neck, penis, anus, and tonsils, as well as genital warts.  So HPV impacts both women and men.

#3  HPV infection generally goes unnoticed. It is asymptomatic. And it is extremely common in the general population. Although it is true that most people who get HPV do not go on to develop cervical cancer, it is also true that those who have HPV infection will not know unless they are specifically tested for it. Therefore, someone who is sexually active is clearly at risk for HPV infection and therefore may be at risk for the associated cancers,  and they may never know this until it is too late.

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#4  There are some case reports related to adverse effects of the HPV vaccine. However, the vast majority of these have not been proven to be causal - in other words, it is not clear that the vaccine caused the reported effects. The most common side effects of the HPV vaccine are those typical of any other vaccine…

(a) pain at the injection site

(b) a "large local reaction", which is a red spot around the vaccine site and is thought to be due to an immune response in the body and is self-limited

(c) the chance of introducing an infection at the site of the injection (which can happen any time we break the skin and is, with very rare exception, prevented by cleaning the skin with alcohol prior to injection)

(d) self-limited fever  

(e) an allergic reaction, which is also always possible anytime we introduce a foreign substance (antibiotics, probiotics, additives in foods, pesticides you put in your lawn but inadvertently breathe in, etc) into our bodies.

These known potential adverse reactions are nearly always self-limited and inconsequential. While it may be true that there are isolated cases of people who have experienced  more serious complications after having this vaccine, those are extraordinarily rare, and they are tracked by a national reporting system called the "VAERS" or "Vaccine Adverse Event Reporting System". This system exists so that very uncommon reactions can be tracked and analyzed to determine whether they were caused by vaccines or by something else. These events are certainly far rarer than the number of women who die of cervical cancer every year.

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#5  It is true that condoms are an effective way to reduce the risk of acquiring sexually transmitted diseases. Their use is highly recommended for this reason.  However, condoms are not always effective for preventing the transmission of HPV because the virus can be passed through skin-to-skin contact.  And, of course, condoms only work when you are using them.   So, although I highly recommend condoms with every sexual encounter to all of my patients, I don’t believe that it obviates the need for the HPV vaccine.

#6  The original HPV vaccines protected against four strains of the HPV virus,  while the new vaccine protects against nine. These nine strains encompass the vast majority of strains known to cause cervical cancer. So although there are many strains that are not covered, the vaccine provides a high degree of risk reduction against HPV infection and therefore reduces the risk of cervical and other HPV-related cancers.

#7  I am one of the most skeptical people on the planet when it comes to the motivations of pharmaceutical corporations to make profits. In some instances, it is a corrupt industry that profits at the expense of people taking the drugs which they manufacture. However, we are fortunate to live in a society in which vaccine administration has many checks and balances before the vaccines are marketed to the general public. There are years of clinical trials that look for rare adverse events. On the whole, the system works well to protect the public. 

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#8  This vaccine has intentionally been recommended to be given to children before they will become sexually active as a two-dose series beginning at age 11. Once you have the virus, the vaccine is ineffective against that strain. This is true for nearly every vaccine-preventable disease. One fact that people may not realize is that this vaccine was originally marketed as a three-dose vaccine series. However, follow-up studies showed that the vaccine was equally effective if given in two doses (if started before age 15) and that is now the recommended schedule.  This reduction in the number of total shots certainly doesn't benefit the pharmaceutical companies.

#9  Vaccines are imperfect. For example, the rotavirus vaccine is given to infants to prevent severe diarrheal disease in infancy. The original formulation of the vaccine, however, was shown to cause intussusception…a serious and potentially lethal intestinal problem. When this was discovered by post-marketing analysis, the vaccine was immediately removed from public use. It has since been reformulated, retested, and redistributed to the general public with great success. This is an example of how the VAERS works effectively. 

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#10 It's easy to forget that over the last 50 years or so, millions and millions of people who would otherwise be dead are still alive because they were vaccinated. Just a few short decades ago, it was not at all uncommon for children to die of meningitis, epiglottitis (caused by Haemophilus influenza type B (HiB vaccine prevents this)), tetanus, polio, smallpox, and many others.  These diseases are now nearly unheard of. You can look up Google images of people standing in line for many city blocks waiting to get the polio vaccine because they saw the effects of that disease with their own eyes on a daily basis.  It (not surprisingly) scared the hell out of them because they knew it could affect them and their loved ones.  We have proven that those vaccines worked and prevented those diseases. My strongest instincts tell me that exactly the same thing will be true for the HPV vaccine. Indeed, data are already emerging showing a significant reduction in cervical cancer rates after the implementation of the HPV vaccine. When can you think of another time when getting a shot could claim to prevent cancer? If you knew that a vaccine could protect you against lung cancer or colon cancer or breast cancer or prostate cancer and that it was nearly always safe, would you not ask for it?


Medicine and its capabilities have always been about risk-benefit analysis. In this particular instance, in my opinion, there is absolutely no question as to which side of the analysis this issue falls. My daughter is three and my son is five. There is absolutely no question in my mind that they will be at the doctor’s office to receive their HPV vaccines when they turn 11.

TweetChat: Lynch Syndrome And Other Hereditary Colon Cancer Syndromes

To conclude Lynch Syndrome and Colorectal Cancer Awareness Month, we held a tweetchat, #GenCSM, with our phenomenal co-hosts Georgia Hurst and Amy Byer Shainman and special guest Heather Hampel, MS, LGC. Hampel is a genetic counselor at The Ohio State University Comprehensive Cancer Center. Her research interests include screening all colorectal and endometrial cancer patients for Lynch syndrome. Here are highlights from our exciting and thought-provoking chat! You can also view the full transcript here, (thanks Amy Byer Shainman for compiling).

The conversation then opened up for participants to ask Heather Hampel questions and highlight important hereditary cancer points. 

Have a question or comment you didn’t get to contribute? Please post in the comments below or tweet your response with #GenCSM. Check back for our next tweetchat; we host every two months! While you wait, check out our highlights of previous tweetchats. 

Don’t forget to follow us on Twitter and Facebook to receive notifications about upcoming discussions and other news. Also please follow our co-hosts @Shewithlynch and @BRCAresponder and our guest, @HHampel1

A Valentine for You, from Cardiovascular Genetic Counselors

Here is what 3 of the top Cardiovascular (CV) Genetic Counselors would like you to know about inherited cardiovascular disease:

 Brittney Murray, MS, CGC (1-3)  Genetic Counselor  Johns Hopkins Hospital   @murray_bdye

Brittney Murray, MS, CGC (1-3)

Genetic Counselor

Johns Hopkins Hospital


1.  Sudden cardiac death can be the first symptom in families with hereditary cardiovascular conditions.  So, even if you are asymptomatic, if you have a family history of heart disease you should discuss your history with a genetic counselor.

2.  Genetic counseling does not mean that you have to have genetic testing.  A genetic counseling appointment can be used to explore your family history, assess your risk of an inherited cardiac condition, and learn of genetic testing options.

3.  CV genetic testing can be preventative!  If we know you are at increased risk, we can monitor you closely - and often identify risk factors at the first sign of disease.  Family members who are identified earlier often have milder disease, and we may even prevent sudden death.

 Amy Sturm (4-8)  Genetic Counselor  Director of Cardiovascular Genomic Counseling  Geisinger Genomic Medicine Institute   @AmyCurrySturm

Amy Sturm (4-8)

Genetic Counselor

Director of Cardiovascular Genomic Counseling

Geisinger Genomic Medicine Institute


4) More than 1 in every 100 people have a genetic predisposition to an hereditary type of heart disease.

5) Many types of hereditary heart disease are preventable with medication or other types of treatment.

6) Genetic testing can help determine who in your family inherited the predisposition to heart disease, and who did not.

7) Heart disease at a young age, usually considered under age 50, is a red flag for a possible genetic cause.

8) Most genetic risk factors for heart disease do not "skip" generations, even if they’ve appeared to, thus far.  Genetic testing can help figure this out!

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    Matthew J Thomas, ScM, CGC (9-13)  Genetic Counselor  Cardiovascular Genetics Program  UVA Health System   @cvgenetics

Matthew J Thomas, ScM, CGC (9-13)

Genetic Counselor

Cardiovascular Genetics Program

UVA Health System


9. A healthy lifestyle, including a balanced diet and regular exercise, are important for a long life; but some people develop heart disease purely based on a genetic change they’ve had since birth.

10. Early diagnosis is key. The earlier genetic heart disease is detected, the greater the chance of preventing serious complications, including sudden cardiac arrest.

11. Genetic testing is a blood or saliva test that is affordable, and covered by many insurance plans.

12. CV genetic testing has the potential to help not only a single patient, but his or her entire family. Finding the genetic cause of one person's heart disease makes it possible for children and other relatives to know whether or not they are at risk.

13. CV genetic counselors work with patients concerned about their risk of developing a serious heart condition or passing their own heart condition to their children.

Hereditary Thyroid Cancer: Part 2

In Part 1 of this series on hereditary thyroid cancer we discussed risk factors that increase the likelihood of an hereditary predisposition to thyroid cancer.  In this post we outline four hereditary cancer syndromes that increase the risk to develop thyroid cancer, and their features. 


Hereditary Cancer Syndromes that Involve the Thyroid

1. Multiple Endocrine Neoplasia Type 2 (MEN2)

  RET  gene (Source:  GHR )

RET gene (Source: GHR)

MEN2 is caused by mutations in the RET gene and is separated into three subtypes:

  • MEN2A
    •  Medullary thyroid cancer (70-100% lifetime risk),
    • Pheochromocytoma (benign tumors of the medulla of the adrenal gland via Mayo Clinic
    • Parathyroid gland tumors, that often result in hyperparathyroidism.
    • The MEN2A subtype constitutes approximately 70%-80% of cases of MEN2
  • MEN2B
    • Medullary thyroid cancer, notably more aggressive than in MEN2A
    • Pheochromocytoma 
    • Benign growths of nerve tissue on the tongue, intestine and elsewhere called neuromas or ganglioneuromas
    • The MEN2B subtype accounts for approximately 5% of cases of MEN2
  • Familial Medullary Thyroid Carcinoma (FMTC)
    • Hereditary medullary thyroid cancer is the only feature
    • The FMTC subtype constitutes approximately 10%-20% of cases of MEN2.

MEN2 and Thyroid Findings:

  • Medullary thyroid cancer can develop during childhood or early adulthood and can spread early.
  • Removal of the thyroid is recommended for virtually all individuals with a RET mutation. 
  • The recommended age for thyroid removal surgery is dependent on the specific mutation found in the individual/family and family history.
  • In the most aggressive forms of MEN2, thyroid removal is recommended as soon as possible within the first year of life. 
  • Other types of screening may be recommended after surgery and a consultation with an endocrinologist and genetics expert familiar with MEN2 is recommended.

People with MEN2 usually inherit the condition from a parent.   However, ~5% of individuals with MEN2A, and up to 50% of individuals with MEN2B, are the first in the family to have the condition.  Someone with MEN2 has a 50% chance to pass the condition to each of his/her children.  MEN2 does not skip generations.


2. PTEN Hamartoma Tumor Syndrome (PHTS)

PHTS is the parent name for several syndromes caused by mutations in the PTEN gene.  The specific syndrome diagnosed in each family with a PTEN mutation will depend on the clinical findings in that individual/family.  One syndrome associated with PTEN mutations is Cowden syndrome.

 PTEN Gene (Source:  SyndromesPedia )

PTEN Gene (Source: SyndromesPedia)

Cowden syndrome (CS) is associated with:

  • An increased risk to develop cancer of the breast, endometrium (the inner lining of the uterus), thyroid, kidney, colon and skin (melanoma);

  • Macrocephaly: a larger than average head size;

  • Increased risk for autism spectrum disorder and/or intellectual disability

  • Non-cancerous skin findings including: trichilemmomas, acral keratosis, papillomatous papules and fibromas that generally appear in an individuals 20s or 30s.

Cowden Syndrome and Thyroid Findings:

  • The risk to develop thyroid cancer in individuals with Cowden Syndrome is ~3 - 35% over their lifetime (general population risk = 1 - 2%).
  • Screening for thyroid cancer can be performed in adults and children with Cowden Syndrome using ultrasound and a thorough manual examination of the thyroid by a clinician, to detect any changes or unusual lumps.
  • It was once thought that thyroid nodules and/or goiters were common in individuals with PHTS.  However, these are also common findings in the general population and more research is needed to find out if they are truly linked with PTEN alterations.

People with PHTS usually inherit the condition from a parent.   However, up to 10-50% of individuals with PHTS are the first in the family to have the condition.  Someone with PHTS has a 50% chance to pass the condition to each of his/her children.  PHTS does not skip generations; however the signs and symptoms can be variable individuals in the same family.

3. Familial Adenomatous Polyposis (FAP) and Attenuated Familial Adenomatous Polyposis (AFAP)

 APC gene (Source:  Genetics 4 Medics )

APC gene (Source: Genetics 4 Medics)

Individuals with classic FAP develop hundreds to thousands of colorectal polyps and have a virtually 100% lifetime risk of colorectal cancer without preventive removal of the colon. 

Individuals with Attenuated FAP (AFAP) develop 10-100 colon polyps and have ~70% lifetime risk to develop colorectal cancer without preventive removal of the colon. 

Other cancers and benign findings can be seen in both conditions.  These include:  

  • Cancers of the colon, stomach, pancreas and thyroid;
  • Non-cancerous abdominal soft-tissue tumors, called desmoid tumors, that tend to regrow in the area in which they develop;
  • Benign pigmented lesions at the back of the eye (retina) called congenital hypertrophy of the retinal pigment epithelium (CHRPE);
  • Tumors of the skull and jaw bone.

FAP/AFAP and Thyroid Findings:

  • The risk to develop thyroid cancer in individuals with FAP/AFAP is ~1 - 12% over their lifetime (general population risk is 1 - 2%).
  • Screening for thyroid cancer in individuals with FAP/AFAP generally begins in the late teens with a thorough examination of the thyroid by a clinician to detect any changes or unusual lumps.  A thyroid ultrasound may also be considered. 

People with FAP or AFAP usually inherit the condition from a parent.   However, up to 25% of individuals with FAP or AFAP are the first in the family to have the condition.  Someone with FAP or AFAP has a 50% chance to pass the condition to each of his/her children.  Familial adenomatous polyposis does not skip generations.

 4. Carney complex, type I

Carney complex is caused by mutations in the PRKAR1A gene.

 PRKAR1A gene (Source: )

PRKAR1A gene (Source:

The findings associated with Carney complex include: 

  • a number of benign tumors and hormone related problems;
  • an increased risk of papillary and follicular thyroid cancers;
  • changes in skin coloring that result in dark brown areas on the skin;
  • noncancerous tumors, called myxomas, that can develop in the skin, breasts, internal organs and in the heart (which can block the flow of blood);
  • tumors in hormone-producing glands, such as the adrenal glands (located on top of each kidney), the thyroid, testes, ovaries and the pituitary gland;
  • adrenal disease (PPNAD) that results too much of the hormone cortisol which can lead to the development of Cushing syndrome. This syndrome causes high blood pressure, abdominal obesity, a round red face, slowed growth in children, fragile skin, fatigue, and other health problems.

Carney complex and Thyroid Findings:

  • Up to 75% of individuals with Carney complex have multiple thyroid nodules, most of which are thyroid follicular adenomas;
  • Thyroid cancer, both papillary and follicular types, can occur although exact lifetime risks have not been determined;
  • Screening for thyroid nodules and cancer can be performed in individuals with Carney complex using ultrasound and a thorough examination of the thyroid by a clinician to detect any changes or unusual lumps.

People with Carney complex usually inherit the condition from a parent.   However, up to 20% of individuals are the first in the family to have the condition.  Someone with Carney complex has a 50% chance to pass the condition to each of his/her children.  Carney complex does not skip generations.

Hereditary Thyroid Cancer: Part 1

 Source: Wikipedia

Source: Wikipedia

The bodily system that regulates our metabolism, growth and development, tissue function, sexual function, reproduction, sleep, and mood is called the endocrine system.  Glands that produce hormones and regulate these functions include:

  • Pineal gland
  • Pituitary gland
  • Thyroid
  • Thymus
  • Adrenal glands
  • Pancreas
  • Reproductive glands (ovaries and testes)

This article will focus on one endocrine gland- the thyroid and hereditary cancers that may be involved when an individual(s) develops thyroid cancer. When thyroid cancer or benign thyroid tumors/conditions occur, it is important to document them in your family history and to report them to your physician. This information can help your genetics team determine if genetic testing may be right for you/your family and also aids in interpreting your genetic test results correctly. 

The following list includes risk factors that increase the likelihood of a genetic predisposition.  When any 1 of these risks factors is present in your/your family history, consider a genetic consultation to learn more.

  • Medullary thyroid cancer at any age, even with no other history of cancer;
  • Thyroid cancer (non-medullary) AND one feature of Carney complex (as described in Table 3 of this paper) in the same person;
  • Thyroid cancer (non-medullary) AND two features Cowden (as described in Table 4 of this paper) in the same person;
  • Papillary thyroid cancer (cribriform-morular variant);
  • Anyone with a personal or family history of thyroid cancer in combination with two or more of the following cancers, especially diagnosed before age 50 or multiple cancers are seen in one person:
    • breast cancer, pancreatic cancer, prostate cancer (Gleason score ≥7), melanoma, sarcoma, adrenocortical carcinoma, brain tumors, leukemia, diffuse gastric cancer, colon cancer, endometrial cancer, thyroid cancer, kidney cancer, dermatologic manifestations and/or macrocephaly, hamartomatous polyps of gastrointestinal (GI) tract
  • A known family history of any of the hereditary cancer syndromes discuss in Part 2 of this post. 

Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations

Genetic Counseling Note:

People who have a mutation in one of their CDH1 genes have a syndrome called Hereditary Diffuse Gastric Cancer (HDGC). This syndrome increases the risk of developing stomach cancer in men and women, lobular breast cancer in women, and may be related to other types of cancer as well. People who carry a CDH1 gene mutation have options for screening and prevention. However, screening for gastric cancer is not very effective. It is hard to detect the cancer, even at a late stage, when it is not curable. Recommendations for individuals with a CDH1 mutation include considering having their stomach removed preventatively in their 20-30s.  Female CDH1 carriers are also at increased risk to develop lobular breast cancer and screening for breast cancer is much more effective.

Welcome Johanna, we are so glad to have you back for a third installment of your journey.  In your first interview with us, you had recently learned that you carried the CDH1 mutation that had been found in your father in 2007. The last time we talked (Episode 10 of Cancer Bytes Podcastyou were 26 years old, nine months out from having your stomach removed to reduce your risk of stomach cancer, and were very doing very well. You are now 32 and almost 6 years out from your surgery. Fill us in – how are you now?

Things have been good.  I am extremely grateful that I had a successful (prophylactic gastric) surgery with no surgical complications and a relatively quick recovery.  The fact that I don’t have a stomach has become such a part of my life that it is hard for me to remember what life was like with a stomach.  For example, I sometimes say I can eat whatever I want, which is really not true.  There are still foods that I have trouble with, but these things have become so routine to me that it feels normal.  I have a pretty healthy and active life.   

 My Dad and me at one of our last visits together in NYC before he died in 2009

My Dad and me at one of our last visits together in NYC before he died in 2009

When I look back at the time surrounding my gastrectomy and recovery time, it was such an intense time period.  I was totally focused on the cancer risks and the steps I need to take for cancer prevention, and rightfully so - I watched what my father experienced with his diagnosis.  All of my energy was directed toward getting through the surgery and recovery.

However, now almost six years out, I am managing the long-term impacts of that surgery.  I am anemic (low iron levels) and have nutritional and vitamin deficiencies.  I have to monitor my bone health.  And I’m only 32.  I don’t think about these things every day, but they do weigh on me.  I will never be carefree about my health - there will always be something to worry about.  It’s a bigger deal than I thought it would be.  


There have been few surprises along the way, tell us about those. 

The first was the pathology after having my stomach removed.  Many of my family members’ who had the surgery before me had pre-cancers identified in the tissue of their stomach after having ‘preventative’ surgeries.  In some ways I think I was expecting to learn the same.  However, two weeks after my surgery when I got my pathology back, it revealed that I had 32 areas of pre-cancers – much more than any of us had anticipated. When I’m dealing with the side effects from this surgery this is a helpful reminder that I made the right decision.  It certainly saved my life.

 A walk that Tom and I took the day I was diagnosed with Lobular Breast Cancer (Good Friday, April 3, 2015)

A walk that Tom and I took the day I was diagnosed with Lobular Breast Cancer (Good Friday, April 3, 2015)

The second surprise was that I was diagnosed with breast cancer at age 31, just six months after getting married.  My cancer diagnosis so soon into our marriage certainly changed our relationship, and we’ve become stronger for it.  But never the less, it was a challenging time and has changed us both.   My original plan was to begin breast screening at age 35 because of the increased risk for breast cancer associated with a CDH1 mutation.  However, after a conversation with my clinician, we decided to begin at age 30 (which has since become the recommended age to begin screening for female CDH1 carriers).  If we hadn’t made that decision to start screening early, my breast cancer would have been much more advanced by the time it was detected.  My breast cancer was stage 1 and I chose to have a bilateral mastectomy with reconstruction.  


You’ve had two major surgeries: a gastrectomy and a bilateral mastectomy. How did they compare?  

 Tom and me in the hospital on the day of my mastectomy

Tom and me in the hospital on the day of my mastectomy

I’ve actually thought quite a lot about this and I think the answer will surprise you.  I found the bilateral mastectomy to be harder, both physically and emotionally.   

When I had my gastrectomy, the hospitalization period was longer, but after about one week the pain was pretty much gone.  I was able to go back to the gym and return to many of my normal physically activities within a month.  The biggest challenge from that point on was learning how to eat again.

 Tom and me at his graduation from Medical School, May 2015, 2 weeks after my mastectomy

Tom and me at his graduation from Medical School, May 2015, 2 weeks after my mastectomy

After my mastectomy, though, the physical pain lasted much longer and I had difficulty doing daily activities independently for two to three months.   Any movement that involved my upper body was difficult and painful.  I had trouble turning doorknobs, brushing my own hair, driving my car, and sleeping.  The emotional impact from this surgery was also greater.  It has impacted my sexuality and my self-image.   When I have clothes on, I think I look pretty good.  But when I’m home looking at myself in the mirror, I see my body is scarred.  It is a constant reminder of two very difficult times in my life.  


In your first interview, you discussed your biggest concern after learning you carry this mutation.  It wasn’t for yourself, but what it will mean for your future children.  How has that conversation evolved over the past years?

 Tom and me with the PGD DNA kit from Genesis Genetics lab in Michigan

Tom and me with the PGD DNA kit from Genesis Genetics lab in Michigan

Yes, it’s tough.  Really tough.  I have always planned to have children.  Now, family planning is much more complicated.  As part of my breast cancer treatment plan I am taking a medication, tamoxifen, for at least 5 years, and I can’t become pregnant while taking the drug due to its possible toxicity to a fetus.  Pregnancy after gastrectomy can also be complicated, mostly from the nutritional point of view.  It is definitely possible, just complicated.  There is also a 50% chance of passing on this mutation on if my husband and I have children naturally.  We’ve learned a lot about a procedure called preimplantation genetic diagnosis (PGD) that is used with in vitro fertilization to create a fertilized embryo and test it for the CDH1 mutation before it is implanted.  We feel very fortunate to have this option, and hope to utilize if/when we are able to have children.  Although, sometimes I wonder if my body has already been though too much.  Could it handle a pregnancy?  Do I have the stamina?   It is more than frustrating to see the idea of having children and building a family turn into a dream that may or may not happen.  


What advice do you have for others?

 My Mom and me doing the "HOPE" painting October 2016

My Mom and me doing the "HOPE" painting October 2016

When I’m faced with a challenging situation, I try to remember that it is temporary and that time will likely make it better.  For example, every once in a while I will make a mistake and eat something I shouldn’t or eat too much.  I’ve only “over eaten” a handful of times in the past 6 years, but I can remember each time vividly.  I feel so extremely full I have to spit up or throw up, and it’s painful.  I can literally feel the food in my throat.  But if I give myself time, even just 20 or 30 minutes, I know it will pass.  These times can be scary, too, because you’re just not sure what is going to happen and how long it will last.  Over time, I’ve learned more about my new body and urge others to give themselves time to understand their new bodies as well.  I like the mantra “this too shall pass” – it helps me get through the tough times.

 My Dad and me at Relay for Life

My Dad and me at Relay for Life

I also encourage everyone with a CDH1 mutation to connect with others.  Sometimes your clinician can help you do this within your own community and there are so many ways to find others on social media.  Connecting with others who understand what you are going through is extraordinary.   CDH1 carriers are often faced with complex decisions at a young age. It’s a lot to handle and can feel isolating and scary.  However, when you do connect with others, remember that no one person’s experience is exactly like yours.  There are certainly some commonalities, but remember that your journey through decisions, surgery and recovery will be your own and unique in many ways.   In addition, you need to rely on your support system – your family, friends and medical providers.  Therapy can also be very helpful to clarify your thoughts and decisions.  It is a journey and no one can do it alone.  



Parts of Johanna’s decision to have a gastrectomy had been documented in the film “My Decision” available on Netflix.

Johanna’s Aunt is the founder of No Stomach For Cancer to support research and unite patients.  More information about the organization a Johanna’s family’s story can be found here.

Neuroendocrine Tumor Day: Spotlight Pheochromocytomas

  Photo credit to  MLobliner  via  Flickr

Photo credit to MLobliner via Flickr

Pheochromocytomas are rare, usually benign tumors that develop in the small glands that sit on top of the kidneys, called the adrenal glands.  Everyone has two adrenal glands that produce hormones that travel throughout the body to give instructions to other organs and tissues.  Although the adrenal glands are the most common location of pheochromocytomas (pheos), pheos can also be found in other parts of the body, usually in the abdomen (also called extra-adrenal tumors or sometimes paragangliomas).  Tumors are often classified based on the body system they originate from.  Pheos are considered a neuroendocrine tumor (originating from nervous (neuro) or endocrine (hormone producing) because pheos often produce hormones. NeuroEndocrine Tumors are often abbreviated NET. 

  Photo credit to  NET Cancer Day  

Photo credit to NET Cancer Day 

Pheos are generally benign (non-cancerous); however, a small percentage of the time they are cancerous.  Most people who develop a pheo are between the ages of 20 and 50, but the tumor can develop at any age.

Because pheos impact the amount of hormones that are produced in the body, symptoms may include: high blood pressure, sweating, rapid heartbeat, tremors, shortness of breath and headache. These symptoms often occur in brief spells of 15 to 20 minutes. Spells can happen several times a day or less often. Certain activities, situations, foods or medications may trigger symptoms. 


Symptoms of a pheochromocytoma can include:

  • Physical exertion
  • Anxiety or stress
  • Changes in body position
  • Bowel movements
  • Labor and delivery
  • Certain foods that are contain a high amount of a substance called tyramine which is common in foods that are fermented, aged, pickled, cured, overripe or spoiled.
  • Certain medications

If left untreated, a pheo can result in severe or life-threatening damage to other body systems, especially the cardiovascular system. Surgery to remove the tumor is usually required.

Most individuals who develop a pheo do not have any previous history of these tumors or any family history of these tumors.  However, research has shown that even in these apparently isolated cases, approximately 24% of individuals have a hereditary predisposition to develop these tumors. In this study, younger age of diagnosis, multifocal tumors, and extra-adrenal tumors were significantly associated with the presence of a mutation.  Learning about a possible hereditary predisposition is important for that individual’s medical care as well as that of their family members.


Pheos can be associated with the following hereditary syndromes:

1. von Hippel-Lindau disease (VHL)

  • Caused by mutations within the VHL gene
  • Average age of pheo diagnosis is 30 years
  • 88% of pheos are adrenal, hormone producing tumors and 12% are extra-adrenal
  • Other clinical findings may include benign tumors of the brain, spinal cord or eyes called hemangioblastomas, kidney cancer and tumors of the pancreas. 
  • Relatively high rate of new (de novo) VHL mutations, meaning that the mutation occurs for the first time in that individual.  This may explain why features of this syndrome are often not seen in previous generations

2. Multiple Endocrine Neoplasia Type 2 (MEN2)

  • Associated with mutations in the RET gene.
  • Pheos commonly diagnosed between 30-40 years of age and can be the first sign in 9-27% of cases
  • Most pheos are adrenal tumors and produce hormones
  • Other clinical findings may include medullary thyroid cancer and overactive parathyroids.

3. Hereditary Paraganglioma-Pheochromocytoma Syndrome

  • Characterized by benign tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma.
  • A Pheochromocytoma is a type of paraganglioma.  A paraganglioma is called a pheo when it is found in the adrenal glands.
  • This syndrome can be caused by mutations in the SDHB, SDHC, SDHD or SDHAF2 genes
  • Individuals with mutations in the SDHC, SDHD and SDHAF2 genes typically develop paragangliomas in the head or neck region.
  • Individuals with mutations in SDHB usually develop extra-adrenal paragangliomas in the abdomen and have a higher-risk for these tumors to be cancerous. 
  • Tumors in this syndrome are typically diagnosed in a person's 30s.
  • Mutations in SDHD and SDHAF2 genes can only be inherited from the father.
  • Mutations in the SDHB and SDHC genes can be inherited from the mother or the father.

4. Neurofibromatosis 1

  • Caused by mutations in the NF1 gene
  • Characterized by multiple coffee-with-milk colored, flat skin findings, freckling in the armpits and genital area, multiple, usually benign tumors of the nerves that are located on the skin’s surface (neurofibromas) and pigmented nodules found on the iris of the eye called Lisch nodules.
  • The presence of pheos in NF1 is much lower than other hereditary pheo syndromes; however, they are more likely to spread than pheos found in other syndromes.
  •  If present, pheos usually appear in the early 40s and are hormone-producing.

5.  Other genes associated with Pheochromcytomas

  • Mutations in the TMEM127, MAX and HIF2A have been associated with pheos, largely due to rapid advances in genetic testing that allow a larger number of genes to be analyzed in the clinical and research settings.
  • TMEM127 mutations are a rare cause of pheos and patients usually present in their early 40s with benign pheos that secrete hormones.
  • MAX mutations are thought to contribute to ~1% of presumed sporadic pheos, although bilateral adrenal pheos and tumor spread have been reported.  These mutations are thought to be inherited from the father, only.
  • HIF2A mutations have been seen in individuals with pheos and a higher concentration of hemoglobin in the blood (polycythemia).

Individuals should be referred for genetic counseling if they have:

  1. Pheo diagnosis before age 50
  2. Multifocal disease
  3. Extra-adrenal tumors
  4. Families with multiple cases of isolated pheos
  5. Personal and/or family history of any of the above additional clinical findings
  6. Known family history of any of the above syndromes



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Clin Endocrinol (Oxf) (2013) 79(6):817-23

Nat Genet (2010) 42:229–233

Endocrinology (2011) 152:2133–2140

Joanna Rudnick, Filmmaker of BRCA Previvor "In the Family" Documentary

Joanna Rudnick, Award Winning Creative Director & Documentary Filmmaker, ‘In the Family’

Joanna, do you realize that you have a lot of ‘Superfans’ in the BRCA and the Genetics Communities?

I find that so hard to believe! I think of myself as a regular member of the community, facing the same challenges as everyone else. I read the posts and blogs of all of you and am trying to learn from everyone else.

It is such a pleasure to speak to you.  Your film was the first to give a voice to the plight of BRCA Previvors and to show what you are really going through:  emotionally, physically, spiritually, and how this impacts family and relationships.  How does it feel to be that historic figure at such a young age?

It came out of my own need for a national and international conversation on these issues.  I was 27 years old when I learned that I’m a BRCA carrier and when I looked on line there were no blogs, no stories.  That was the landscape. I did find FORCE and Sue Friedman, thank goodness.  Ironically, in my first call with Sue Freidman I told her I’d like to make a film about the BRCA landscape and she asked me if I was a carrier and I said no!  I wasn’t ready to share my status, I guess I couldn’t handle the perceived stigma.  It was still taboo to speak about all of these issues, like prophylactic surgery.  We were pioneers.  We were the first large group of people at high risk to make these big decisions. 

You shared a great deal of yourself in this film.  Your family history, your carrier status, your then relationship.  It was all out there, and it was raw.  Do you ever have a moment of regret?

Honestly, I don’t have a moment of regret.  In the process of making the film I was in a bubble – but then right before it aired on PBS in 2008 I had a moment of panic.  It dawned on me that I was speaking out not just for myself, but in some ways, for the community.  For example, the scenes with my then boyfriend and speaking about prophylactic surgery -- I knew that dialogue would be important to other women in similar situations. But starting that conversation was so important to me that it transcended my own discomfort. 

Is there anything you wish you had included in the film, in retrospect?

So much made it into the film, which is a testament to my editor Leslie Simmer, my Executive Producer Gordon Quinn, the families that gave so much and the partnership we all had in bringing this story to life.  We packed a lot in there from personal stories to the science to the policy and socio-emotional issues.  From break-ups to topless calendar shoots to thorny family issues. It’s in there.

What is your favorite part?

The moment I’m speaking to Linda, who bravely shared, “I have no breasts, I have no hair, I have no ovaries. It sucks.”  It was the most honest moment.  It was not sugar coated.  I also enjoyed the moments of humor like when Martha talks about her prosthetic breast being on her back.  I thought it was important to show that families can come together and laugh, even in the hardest of times.

The relationship featured in the film ended, and you are now married and have 2 children.  Will you tell us about how you met your husband?

Our families are friends, so we’ve known about each other our entire lives, but we had never really had the chance to connect.  Until, ironically, a family funeral brought us together.  Soon after, he watched the film and already knew my whole story!  He came to our relationship with a deep understanding of the issues I faced being BRCA+ and the film actually served as a bridge for the conversations to come.  I hope that it can be a tool for other young women in relationships as well.  

And a bit about your children?

I have 2 girls – ages 5 and 4.  So life is busy.  One part of what keeps me active and involved in the BRCA community is having two girls and being uncertain about their future. If either or both of them someday learn they are carriers, I want them to have different choices – not just prophylactic surgery – and protections from stigma and discrimination.  This is the responsibility of our generation.  We also have to make sure our information is available in shared databases to help research move forward and to participate in trials and studies.


You made this movie as a previvor, but unfortunately you were later diagnosed with cancer yourself, correct?  Tell us about that.

I was diagnosed 4 years ago this December with triple-negative breast cancer at age 38.  I was nursing my 3-month old daughter and had just moved to the Bay area 3 days earlier, and I felt a lump.  I had my daughters very close together and was unable to have a breast MRI after I finished nursing my first daughter because I was already pregnant with my second, so I went a long time without having screening.  I also had this fallacy that none of the women in my family had breast cancer pre-menopausally and so I had time, and of course that was a fallacy – you cannot predict if or when it will happen.  I try not to beat myself up about not having had prophylactic surgery beforehand.

Were there any surprises for you in your breast cancer treatment?

Yes.  I was surprised to learn that even as a BRCA carrier there were few precision medicine and targeted therapy options available to me. I was lucky to find an oncologist at Stanford who was doing research on how to more effectively treat BRCA+ associated breast cancer. When will this happen on a more widespread basis?

How are you now?

I’m doing great.  I went through chemotherapy and had a complete pathological response.  My outcome looks good.  I ended up having a bilateral mastectomy and oophorectomy after my breast cancer treatment.  When I woke up I felt like I had crossed over a line.  I could finally turn down the volume on the conversation of ‘when should I do it?’. There was a relief there, even though I was in premature surgical menopause and dealing with a bilateral mastectomy, reconstruction, and all of the challenges that came with those.

Your story is out there – not just for yourself, but for your husband, your family members, and your children.  What are your thoughts about that?

That is a really difficult part of this for me.  I wasn’t thinking about my future children when I made the film.  At the same time, I plan to be extraordinarily open with my children as they get older.  I hope they will want to be a part of the discussion, but it will be their decision.  It brings me some comfort to know that when they will go through genetic testing, it will be in a time when the stigma is not the same. Their peers will be educated and the rhetoric will be different.  Someday, it will be their decision about when they want to be tested, if they want to share that information and when. 

When you made this film, few had heard of BRCA.  Now many people know about it.  How has life changed with this recognition?

The taboo has been minimized, not just by Angelina Jolie’s disclosure, but the bloggers and the many patient advocates who’ve shared their stories.  I feel tremendous gratitude to all of you.

What wish do you have for the future for the BRCA community?

Of course, I wish for a preventive option(s) that would prevent women with BRCA mutations from developing cancer – and this new option would not involve the removal of body parts.

Anything else? 

To the advocates in the BRCA and hereditary cancer community:

I have such gratitude to you for talking so openly about this.  I am so grateful for all that you are doing to get the word out there, and to reduce the shame about being a carrier. Thank you.


Stay updated with Joanne by following on Twitter and learn more about the documentary, "In The Family"

Sue Friedman, Founder of FORCE, Shares

Sue Friedman

Sue Friedman is the Founder and the Executive Director of FORCE: Facing Our Risk of Cancer Empowered, a national non-profit organization dedicated to improving the lives of those with hereditary breast, ovarian, and related cancers.  Sue has been a well-known leader in the BRCA community for many years --- this is a bit of her personal story. 


When did you learn that you carry a BRCA mutation?

I was diagnosed with breast cancer at age 33 in 1996 and was told I had a multifocal DCIS.  I had no family history of cancer, but didn’t have a very large family.  I was told that my paternal grandmother had kidney cancer, but we really don’t know what her primary cancer was.

Genetic testing was new in 1996 and my original medical team never recognized that I was a candidate for testing.  Nine months after I had a unilateral mastectomy for my diagnosis I was reading a magazine article from a Jewish newsletter and learned that I may be at increased risk to carry a mutation because I’m Jewish and was diagnosed with breast cancer at a young age.  It was then I learned that ovarian cancer is part of the syndrome, and I wondered if my grandmother may have had ovarian, instead of kidney, cancer.  I brought the article to my doctors and they did the test – no genetic counseling, they just took my blood.  They asked me to call for results in 5 weeks, which I did.  I received no call back.  I then called back every day for 5 days.  On the 5th day I felt a lump in my armpit.  I had recurrent breast cancer. My original pathology was re-reviewed, and I learned that I actually had invasive breast cancer from the start.  I then found out that my genetic testing was never run.  I went for a 2nd opinion at MD Anderson and they offered me genetic counseling and testing.  In 1997 I finally learned that I was a BRCA2 mutation carrier.


What resources were available to you at that time?

There were very limited resources available to BRCA carriers in 1997.  Before my recurrence, I attended a breast cancer support group meeting at MD Anderson and told my story. A woman at the support group told me I hadn’t “experienced suffering”, because I had not gone through chemotherapy, as some of the others had.  

Later, after my recurrence, by age 35 years old, I had undergone chemotherapy, radiation, two separate mastectomies and reconstruction, an oophorectomy and had gone through menopause without hormones.  I had sacrificed my fertility and my dream of having a second child. I wondered if I now was “deserving of support.”

This experience sensitized me to the issues that face previvors who, like me, needed support, even if it their experience was different than the average cancer support group. In my opinion there is no one out there who hasn’t suffered enough to deserve support.


What made you start FORCE?

It was very clear to me from my personal experience that there was a need for a place where people could access information, resources, and support. I also recognized that the culture needed to be inclusive of people in various stages of their journey.  At the time that I started FORCE, the community that now goes by the term “previvor” or survivors of a predisposition to cancer, needed compassionate support just like their survivor counterparts.  We needed better options and resources.


How has the field changed in this time?

It’s so exciting – in the past 20 years I’ve seen a lot of changes and they are making lives better.  There is greater awareness of genetic counseling and genetic testing, improvements in genetic testing, sentinel node biopsies (instead of full axillary dissections), better breast reconstruction, we’ve developed targeted therapies (PARP inhibitors), and new ones are on the way.  We still have a long way to go, but we have come so far together.  We are the pioneers here.


What has been the greatest challenge in running FORCE?

Funding.  I’m a veterinarian by training and had no business background, but I saw the need.  We’ve had volunteers along the way who helped tremendously.  One volunteer, with substantial business background is now our CEO. Barbara Pfeiffer has been an incredible and amazing leader, helping us grow our capacity and reach, implement metrics, build quality programs, and turn a mostly volunteer organization into a nonprofit with full-time staff.


Name one story that illustrates the greatest reward?

It happens every day, it is hard to pick one story. We’ve helped people appeal to their insurance companies when they’re told they can’t get genetic testing.  One woman had recurrent ovarian cancer and did not qualify for a clinical PARP trial.  A few weeks later, Lynparza received FDA approval for women with a BRCA mutation and ovarian cancer that had recurred after three previous lines of chemotherapy. We were able to  contact her to let her know about it and she was able to receive the drug.  Some people were on the fence about BSO, and received support, had the surgery and were diagnosed with early ovarian cancer instead of what could have been a later stage, more aggressive cancer if they had waited. There are so many success stories every day.


There are many strong advocates in the BRCA community on Facebook, Twitter, LinkedIn.  Does FORCE have any plans to try to invite those advocates to join forces with FORCE?  Do tell.

We know that the social media is strong and we will continue to try to engage those groups to the capacity that we are able. So many of our FORCE volunteers and members are active in these groups. We’ve reached out to several advocates and have invited them to be part of a focus group at our upcoming FORCE conference. 


What are your hopes for the field in the next 10 years?

The development of Herceptin changed the landscape for Her2+ breast cancers and opened up targeted therapies for cancer treatment.  We hope the emerging data on PARP inhibitors will give BRCA carriers more options and that more targeted therapies are developed for people with inherited cancers, with fewer side effects. We are partnering with researchers on prevention studies with the belief that some day prophylactic surgery will not be the only option for effective cancer prevention.  One of our missions at FORCE is to prove to the research community that the hereditary cancer communities will be partners in clinical trials:  we will sign up, we will show up, we will be partners in this search.  


Stay updated with FORCE by following them on Twitter, Facebook, YouTube and Pinterest

FDA Updates Recommendation Against Ovarian Cancer Screening

The FDA released a statement yesterday recommending AGAINST use of ovarian cancer screening methods for healthy women that are seeking screening proactively.  The statement has important implications for BRCA, Lynch Syndrome, BRIP1, RAD51C and RAD51D mutation carriers who have an increased lifetime risk for ovarian cancer.

The full statement can be found below or at this link.

Date Issued: September 7, 2016

Audience: Women and physicians

Medical Specialty: Primary care, Obstetrics and Gynecology, Oncology, Gynecologic Oncology, Genetic Counseling


The FDA is alerting women about the risks associated with the use of tests being marketed as ovarian cancer screening tests. The Agency is especially concerned about delaying effective preventive treatments for women who show no symptoms, but who are still at increased risk for developing ovarian cancer. Based on currently available information, the FDA recommends against using currently offered tests to screen for ovarian cancer.


Ovarian cancer occurs when abnormal cells in or near the ovaries grow and form a malignant (cancerous) tumor. In the United States, ovarian cancer is the fifth leading cause of cancer-related death among women. The National Cancer Institute estimates that in 2016, more than 22,000 women will be diagnosed with ovarian cancer. Women who have reached menopause, women who have a family history of ovarian cancer, and women with the BRCA1 or BRCA2 genetic mutations have the highest risk for developing ovarian cancer.
Summary of Problem and Scope:

Despite extensive research and published studies, there are currently no screening tests for ovarian cancer that are sensitive enough to reliably screen for ovarian cancer without a high number of inaccurate results. However, over the years, numerous companies have marketed tests that claim to screen for and detect ovarian cancer.
For example, recently, Abcodia Incorporated began marketing the Risk of Ovarian Cancer Algorithm (ROCA) test in the United States, with claims that the ROCA test can screen for and detect ovarian cancer before symptoms appear and increase the chance for survival. Yet, available data do not support its claims.

FDA is concerned that women and their physicians may be misled by such claims and rely on inaccurate results to make treatment decisions. Based on the FDA’s review of available clinical data from ovarian cancer screening trials and recommendations from healthcare professional societies and the U.S. Preventive Services Task Force, available data do not demonstrate that currently available ovarian cancer screening tests are accurate and reliable in screening asymptomatic women for early ovarian cancer. For example, some women may receive test results that suggest ovarian cancer even though no cancer is present (a false-positive). These women may undergo additional medical tests and/or unnecessary surgery, and may experience complications related to both. Or, test results may not show ovarian cancer even though cancer is present (a false-negative), which may lead women to delay or not seek surgery or other treatments for ovarian cancer.

Using unproven ovarian cancer screening tests also may be harmful for women with increased risk for developing ovarian cancer. For instance, these women and their doctors may not take appropriate actions to reduce their future risk if they rely on a result that shows no cancer currently present. Yet, this group of women is still at high risk of developing ovarian cancer later based on their gene mutation and/or family history. The FDA believes that women at high risk for developing ovarian cancer should not use any currently offered test that claims to screen for ovarian cancer.

Screenings for breast, colon and cervical cancers are successfully used for early detection and prevention of cancer-related deaths. At this time, the FDA is not aware of any valid scientific data to support the use of any test, including using a test cleared or approved by FDA for other uses, as a screening tool for ovarian cancer. Any safe and effective ovarian cancer screening test would have to take into consideration the particular way in which this cancer progresses. Unlike other cancers, this type of tumor has no pre-cancer that is currently detectable without invasive surgery, and it usually spreads to other parts of the abdominal cavity before it is discovered.


For women, including those at increased risk of developing ovarian cancer:

  • Be aware that there is currently no safe and effective ovarian cancer screening test.
  • Do not rely on ovarian cancer screening test results to make health or treatment decisions.
  • Talk to your doctor about ways to reduce your risk of developing ovarian cancer, especially if you have a family history of ovarian cancer, or have the BRCA1 or BRCA2 genetic mutations.

For physicians:

  • Do not recommend or use tests that claim to screen for ovarian cancer in the general population of women. Be aware that testing higher risk asymptomatic patients for ovarian cancer has no proven benefit and is not a substitute for preventive actions that may reduce their risk.
  • Consider referring women at high risk of developing ovarian cancer, including those with BRCA mutations, to a genetic counselor or gynecologic oncologist, or other appropriate health care provider for more specialized care.
  • FDA Activities:

There are no ovarian cancer screening tests that have been cleared or approved by the FDA and information in the medical literature, including published clinical trial data, do not demonstrate that currently available ovarian cancer screening tests are accurate and reliable, particularly for asymptomatic women. As new information about ovarian cancer screening tests becomes available, the FDA will provide updates as appropriate.

Contact Information: 

If you have questions about this communication, please contact the Division of Industry and Consumer Education (DICE) at DICE@FDA.HHS.GOV, 800-638-2041 or 301-796-7100.

Additional Resources:

National Cancer Institute at the National Institutes of Health. Ovarian, Fallopian Tube, and Primary Peritoneal Cancer – Patient Version

National Cancer Institute at the National Institutes of Health. Ovarian, Fallopian Tube, and Primary Peritoneal Cancer – Health Professional Version

Cancer Moonshot 2016

 Photo Credit:

Photo Credit:

June 29th, 2016 was Cancer Moonshot day. Over 270 summits across the United States, Puerto Rico and Guam were held. These events initiated the conversation and collaboration between scientists, advocates, researchers, physicians, genetic counselors, politicians, oncologists, nurses, data and technology experts, and patients among others. The goal of the Cancer Moonshot Initiative is to double our progress in finding cures for cancer; to achieve a decade's amount of progress in 5 years.

Vice President Joe Biden was named the leader of this initiative by President Obama and gave his final State of the Union address to kick off all the summits. He stressed the urgency of the project, the importance of collaborating and communicating, and how crucial it is for us to learn from each other.

He expressed the complexity of cancer and how it is not one disease, “There are over 200 distinct types of cancer, a complicated disease to treat and understand.” The Vice President painted a picture of a future if this initiative is a success, “Imagine when the thread of cancer is a distant memory. when kids can be vaccinated for cancers”.

Our #hcchat tweetchat, with our brilliant co-hosts Georgia Hurst and Amy Byer Shainman, discussed the Cancer Moonshot with Dr. Vincent DeVita, the Chief of Medicine at NCI during Nixon's Cancer Act. We asked Dr. DeVita a series of questions to hear his expertise then opened to audience members to ask questions.

#Hcchat is now evolving into #GenCSM which will expand to cover genetic cancer social media along with hereditary cancer.

Question 1: How did you feel about Nixon's Act when it was first proposed?

Question 2: Who was Mary Lasker and how did she change your mind about the Cancer Act?

Question 3: Would you say that Nixon's Cancer Act was a success? Why?

Question 4: How is the National Cancer Moonshot Initiative to accelerate cancer research different/similar to Nixon’s act?  

Question 5: What was the most important thing you learned from working on Nixon's Initiative that could be helpful to the Moonshot? 

Question 6:  What are the greatest challenges facing the Moonshot?

Question 7:  How crucial is data sharing to the success of the Moonshot?

Question 8: What would be realistic expectations of the Moonshot?

Question 9: People still believe that we can cure #cancer, as though it’s one disease. What would be a more accurate goal?

Dr. Vincent DeVita answered questions from the audience...

Read the full transcript here or search #Hcchat on Twitter. Have a question or comment you didn't get to contribute? Please post in the comments below.

Don’t forget to follow us on Twitter and Facebook to receive notifications about upcoming discussions and other news. Also please follow our amazing co-hosts @Shewithlynch and @BRCAresponder.

Discussion: Should We Test Minors For Hereditary Cancer Syndromes?

Last week we held a Tweet Chat with our amazing co-hosts Georgia Hurst and Amy Byer Shainman to hear what our community had to say on the issue of genetic testing in minors. This is a controversial topic with no easy answers, and we were thrilled with the great turnout and information shared. Here are the highlights:

Question 1: Is genetic testing children generally a bad idea or a good idea for hereditary cancer syndromes? Why?

Question 2:  Which hereditary cancer syndromes are the exceptions to this? Why?

Question 3: What factors do we need to consider with the genetic testing of children?

Final thoughts: 


More resources:

Read the full transcript here or search #Hcchat on Twitter. Have a question or comment you didn't get to contribute? Please post in the comments below.

Don’t forget to follow us on Twitter and Facebook to receive notifications about upcoming discussions and other news. Also please follow our amazing co-hosts @Shewithlynch and @BRCAresponder.

Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? : Guidelines Have Expanded

 Photo Credit:&nbsp; Mehmet Pinarci , via Flickr

Photo Credit: Mehmet Pinarci, via Flickr

Hereditary Breast and Ovarian Cancer syndrome (HBOC) is a well-known hereditary cancer syndrome characterized by early-onset breast cancer as well as ovarian, pancreatic, prostate cancers and/or melanoma.  Genetic counseling and testing can help individuals learn more about their cancer risks, and their options for surveillance and risk reduction. Approximately 10% of all cancer is thought to be hereditary.

mgc HBOC 022818.jpg

Anyone with the following risk factors in their personal or family history should consider seeing a certified genetic counselor to learn more about their risks and genetic testing options:

  • Breast cancer diagnosed before the age of 50
  • Breast cancer that is triple negative (ER-/PR-/Her-2-) and diagnosed before age 60.
  • Even one case of ovarian cancer.
  • Male breast cancer.
  • Personal history of pancreatic or prostate cancer at any age and one case of breast, ovarian pancreatic, or prostate cancer. The prostate cancers in the family should have a Gleason score of ≥7. **
  • Multiple HBOC cancers in one person (ex: an individual diagnosed with two breast primaries, with both breast and ovarian or with breast and pancreatic cancer).
  • The combination of breast, ovarian, and/or pancreatic cancer on the same side of the family.
  • Jewish ancestry in combination with any of the above.
  • Jewish ancestry and one case of breast (at any age), ovarian or pancreatic cancer (even in the absence of additional family history).
  • Known genetic mutation in the family (e.g. BRCA1, BRCA2).
  • A BRCA1/2 mutation found on genetic testing of a tumor sample (known as a somatic mtuation).***
  • Patients diagnosed with advanced breast cancer that is HER2-negative AND who are eligible for single-agent chemotherapy are eligible for germline BRCA 1/2 testing.  If BRCA+, they may be a candidate to take a medication called Olaparib (also called Lynparza), a PARP inhibitor that is FDA approved for the treatment of patients with advanced breast cancer and  BRCA pathogenic variants.****

*The risk factors listed above should not be used exclusively to determine candidates for genetic counseling.  There are other factors that should be evaluated when determining a person’s risk such as their family size, number of female relatives, prophylactic surgeries and adoption.  The above risk factors pertain to HBOC.  For a full assessment, risk factors for other hereditary cancer syndromes should also be evaluated.  

*Insurance coverage for testing varies and preauthorization is performed after a detailed personal/family history is obtained.

**NCCN 2016 Version 2.2016 

***NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 1.2018

****NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Version 4.2017

Beyond BRCA: Lynch Syndrome

 Georgia and her son

This article is part of a series built to highlight rare hereditary cancer syndromes. Here's Georgia's story of living with Lynch syndrome.

Genetic Counseling Note: Lynch syndrome, also called Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC), is an autosomal dominant condition that can be caused by a mutation in one of at least 5 different genes (MSH2, MLH1, MSH6, PMS2, EPCAM). People who inherit one mutation in any of these genes have a high lifetime risk to develop colorectal cancer, and female carriers have an increased risk to develop uterine and ovarian cancers. However, those risks vary greatly depending on the gene involved. The cancers found in Lynch syndrome are often early-onset, and can include other cancers, including those of the skin, genitourinary tract, brain and other gastrointestinal tract cancers.  

Tell us a little bit about yourself

I’m 45 years old and I love politics, reading books, writing, gardening, hiking, and spending time with my family.  I’m also passionate about my advocacy efforts for the nonprofit and #Hcchat standing for hereditary cancer chat (now #GenCSM tweetchat).

How did you learn you have Lynch syndrome?

My father, who survived a diagnosis of colon cancer in his forties, died of cirrhosis at age 74. After having lived far from family for many years, I moved back home after my father died. Soon after, my brother Jimmy was diagnosed with colon cancer at age 35, and died at 36 in 1995.

After my brother Jimmy died I realized there must be some sort of connection of the cancers in my family. My father, paternal aunt, and brother all developed early-onset colon cancer. My husband had a cousin who was a gastroenterologist and I shared my family history with him. He arranged for me to have my first colonoscopy at age 25 based on my family history, and luckily it was normal. I continued having frequent colonoscopies based on my history, but it wasn’t until 2010, when my second brother was diagnosed with colon cancer at age 48, that his doctor brought up Lynch syndrome and genetic testing. That brother was found to carry a mutation that causes Lynch syndrome. I made an appointment with a genetic counselor and also tested positive. Three weeks later, at age 40, I had my ovaries and uterus removed prophylactically. I thought I was making an informed decision, but in retrospect, everyone had minimized the negative impact of having this surgery – they were focused on reducing my cancer risks. There was little to no discussion on how this surgery would impact my quality of life – the impact was enormous and immediate.

I was looking for support on-line from other women who were going through what I was experiencing (depression, loss of perceived femininity, loss of sex drive, negative body image). Instead I found that many members of the existing on-line communities said I should be happy I had prophylactic surgery, and not cancer, and shouldn’t complain about quality of life. The prophylactic measures women were taking were being minimized. This led me to start writing a blog about my experience for other women going through the same, and that led to I have built a vibrant community in the hereditary colon cancer space in which sharing our candid experiences is welcomed.  

You’ve been very outspoken about what it was really like to have your ovaries and uterus removed at age 40 and the negative impact it has had on your quality of life. Knowing what you know now, how would you speak to other Lynch patients considering this surgery?

For most women with Lynch syndrome, it is probably a good idea to have these risk-reducing surgeries - but don’t think for one moment that they don’t come at significant costs.

Research all you can. Make sure you speak to a certified genetic counselor. Be sure your gynecologist is patient, compassionate, and is willing to go the distance with you after you’ve had your ovaries removed. If you are a candidate for hormone replacement therapy, please note that it may need to be tweaked over a year or so until the right levels are found. Know that the age at which you have the surgery, and specifically how close you are to natural menopause, will hold implications for how many side effects you experience after the surgery. Go into this decision with as much information as you can.

You had a poor relationship with your father. How did that complicate your inheriting a Lynch syndrome mutation from him?

My mom died suddenly of cardiac disease when I was nine and my father, an alcoholic, was not equipped to raise a young child, and my older siblings had either left home or were ready to leave. My father was emotionally abusive towards me. For me, it is hard to reconcile my Lynch syndrome diagnosis after my poor relationship with the parent who was the mutation carrier. I was very angry to discover I inherited Lynch, had to remove my ovaries, and then worry about my son possibly having the same. Writing about my feelings, without any sugarcoating, has really helped me. Helping others through my advocacy efforts has also been instrumental in helping me reconcile the diagnosis. I believe everyone can find a way to take something negative and turn it into a huge positive.

Has there been any silver lining of having Lynch syndrome?

Yes. I met Amy Byer Shainman during a tweet chat a few years after my surgery and she is now one of my closest friends. Through Amy, I was introduced to the BRCA community. Many of these women had also had their ovaries removed before menopause and could relate to the feelings I was having in surgical menopause. I’ve made some great friends in the BRCA community. They are organized, very empathetic, open, honest, and wonderful. I’ve learned so many lessons from them about advocacy that I’ve been able to carryover to the Lynch community. There’s another person who’s made a significant difference in my life, too. Her name is Ellen T. Matloff – her staunch support for my advocacy efforts has overwhelmed me.

What do you want people to learn on Lynch Syndrome Awareness Day?

You need to see a certified genetic counselor to assess your risks. The genes for Lynch syndrome are associated with different risks and recommendations for surveillance and prophylactic surgeries. It’s not one-size-fits-all. You cannot advocate for yourself properly if you don’t know this information. Most doctors don’t know about these subtle differences within Lynch syndrome. Removing body parts is a big deal and may affect the quality of your life. Be vigilant with your health and screenings so that you can increase the likelihood of making the best decisions for yourself and your family. Talk to your doctor about aspirin therapy.