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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...
NSGC 2023 Poster Presentation

NSGC 2023 Poster Presentation

by Danielle Bonadies | Oct 16, 2023 | Publications

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: Karyotype, Germline Clues in Somatic Diagnosis Lost in Translation

Genetic Testing Challenges in Oncology: Karyotype, Germline Clues in Somatic Diagnosis Lost in Translation

by Danielle Bonadies | Mar 7, 2023 | Genetic Testing Challenges in Oncology, News

A 61-year old Jewish woman with a hematologic malignancy and a family history of breast cancer was referred to genetic counseling. As part of her work-up, the heme-onc had ordered somatic testing of the patient’s blood cancer, which revealed a TP53 variant at a high...
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