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Muddled Reporting, Interpretation of PALB2 VUS

Muddled Reporting, Interpretation of PALB2 VUS

by Danielle Bonadies | Feb 23, 2022 | Genetic Testing Challenges in Oncology, News

A woman’s physician ordered multi-gene panel testing due to her family history of cancer and told her that the lab had found two “errors” in the PALB2 gene. Compared to the general population, patients with a pathogenic variant in PALB2 have between...
Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

by Danielle Bonadies | Jan 27, 2022 | Genetic Testing Challenges in Oncology, News

An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already undergone surgical treatment before the oncologist referred her to a genetic counselor. After taking a...
Prior Retinoblastoma Not Considered in Test Ordering

Prior Retinoblastoma Not Considered in Test Ordering

by Danielle Bonadies | Dec 22, 2021 | Genetic Testing Challenges in Oncology, News

A woman in her 20s was concerned about her risk for breast cancer because her mother had previously had it. She saw a medical oncologist and wanted to be tested to see if she had inherited any pathogenic genetic variants that could increase her risk for developing...
No Follow-up on Insurer Denial Delays Cancer Risk Management

No Follow-up on Insurer Denial Delays Cancer Risk Management

by Danielle Bonadies | Nov 29, 2021 | Genetic Testing Challenges in Oncology, News

A 44-year-old woman with breast cancer came to see a surgeon to discuss risk-reducing surgical options. Three years earlier, she had also been diagnosed with papillary thyroid cancer. Now, because of her breast cancer diagnosis, the patient had come from a small,...
Same Multigene Cancer Risk Panel Not Right for All

Same Multigene Cancer Risk Panel Not Right for All

by Danielle Bonadies | Oct 28, 2021 | Genetic Testing Challenges in Oncology, News

A 60-year-old woman with breast cancer and a history of various cancers in her family came to see a genetic counselor to discuss genetic testing to guide her treatment and risk management. The woman also had two café-au-lait macules, a birthmark that can occur in...
BRCA1 Variant Downgraded After Risk-Reducing Surgery

BRCA1 Variant Downgraded After Risk-Reducing Surgery

by Danielle Bonadies | Sep 29, 2021 | Genetic Testing Challenges in Oncology, News

A 27-year-old woman, who five years earlier had learned she harbored a pathogenic variant in the BRCA1 gene, was now considering removing her breasts and ovaries to reduce her risk for breast and ovarian cancer. She came to see a genetic counselor to discuss her...
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