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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 | Featured Media Article

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...
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...
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results

Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results

by Danielle Bonadies | Aug 29, 2022 | Genetic Testing Challenges in Oncology, News

A dermatologist’s misdiagnosis of a patient with Lynch syndrome, a type of inherited cancer predisposition syndrome, led to unnecessary colonoscopies and healthcare expenses. The patient had multiple skin tumors, one of which was genetically tested, revealing...

Recent Posts

  • Genetic Testing Challenges in Oncology: Karyotype, Germline Clues in Somatic Diagnosis Lost in Translation
  • Genetic Testing Challenges in Oncology: Patient with Pending Bill has BRCA1 Result Withheld
  • Precision Oncology in 2022: New Drugs and Tests Amid Ongoing Access Barriers
  • NSGC 2022 Poster Presentation
  • The Genetics of Pancreatic Cancer

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