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Genetic Testing Challenges in Oncology: VHL Variant in Atypical Patient Raises Management Questions

Genetic Testing Challenges in Oncology: VHL Variant in Atypical Patient Raises Management Questions

by Danielle Bonadies | Nov 21, 2023 | Genetic Testing Challenges in Oncology, News

 During a routine gynecogical appointment, a young woman reported that her paternal grandmother, was diagnosed with early-onset breast cancer and still living.  Based on this family history, the gynecologist ordered a genetic testing that included multiple genes to...
Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding

Genetic Testing Challenges in Oncology: Broad Panel Assessment Reveals Unexpected RET Finding

by Danielle Bonadies | Sep 6, 2023 | Genetic Testing Challenges in Oncology, News

A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the patient’s gynecologist, the patient realized her mother actually had cervical cancer, not ovarian. The test...
Genetic Testing Challenges in Oncology: Patient Insists on Unnecessary Von Hippel-Lindau Testing

Genetic Testing Challenges in Oncology: Patient Insists on Unnecessary Von Hippel-Lindau Testing

by Danielle Bonadies | May 20, 2023 | Genetic Testing Challenges in Oncology, News

A doctor told a 59-year-old patient that she may have Von Hippel-Lindau syndrome (VHL) due to a personal history of polyps and family history of gastrointestinal cancers. The patient met with a genetic counselor, who determined the patient did not have any features...
Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld

Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld

by Danielle Bonadies | Jan 23, 2023 | Genetic Testing Challenges in Oncology, News

A patient diagnosed with metastatic, poorly differentiated, stage IIIB invasive ductal, triple-negative breast cancer was not given pre- or post-test genetic counseling before undergoing genetic testing. After seeing another surgeon for bilateral mastectomy, the...
Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis

Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis

by Danielle Bonadies | Oct 12, 2022 | Genetic Testing Challenges in Oncology, News

A woman with a history of breast cancer and a family history of pancreatic cancer was diagnosed with Cushing’s disease. She was referred to a genetic counselor who found that the patient had a TP53 variant associated with Li-Fraumeni syndrome (LFS) that had been...
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