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BRCA1-Positive Breast Cancer Patient Told She’s Negative

BRCA1-Positive Breast Cancer Patient Told She’s Negative

by Danielle Bonadies | Mar 26, 2021 | Genetic Testing Challenges in Oncology, News

A 57-year-old woman with breast cancer was referred by her surgeon to see a genetic counselor because this was her second breast cancer diagnosis. Three years earlier, this patient had been tested for inherited pathogenic variants in BRCA1 and BRCA2 genes associated...
Peutz-Jeghers Misdiagnosis Causes Medical, Family Confusion

Peutz-Jeghers Misdiagnosis Causes Medical, Family Confusion

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

Twenty years ago, a 45-year-old woman with a recent diagnosis of breast cancer went to see a dermatologist, who noted hyperpigmentation of her lips. The dermatologist clinically diagnosed her as having Peutz-Jeghers syndrome (PJS), a rare genetic condition that often...
Missed Mutations Highlight Somatic, Germline Test Difference

Missed Mutations Highlight Somatic, Germline Test Difference

by Danielle Bonadies | May 26, 2020 | Genetic Testing Challenges in Oncology, News

A patient with Cowden syndrome developed a neuroendocrine tumor. Cowden syndrome is a hereditary condition that causes non-cancerous tumor-like growths in the skin and mucous membranes. It can also increase the risk for certain cancers, such as melanoma, breast,...
Patient with BRCA1 VUS Has Prophylactic Surgery

Patient with BRCA1 VUS Has Prophylactic Surgery

by Danielle Bonadies | Apr 6, 2020 | Genetic Testing Challenges in Oncology, News

A woman in her 40s visited a general surgeon for non-cancer related reasons and was assessed for her hereditary risk for cancer. The patient did not have a personal history of cancer, but her mother, who is in her 60s, had recently been diagnosed with...
Confusion Over Colon Cancer Syndromes Leads to Wrong Testing

Confusion Over Colon Cancer Syndromes Leads to Wrong Testing

by Danielle Bonadies | Feb 24, 2020 | Genetic Testing Challenges in Oncology, News

During a visit with a new primary care physician, a 45-year-old man told his doctor that he had a family history of cancer and Lynch syndrome, a hereditary condition that increases the risk for colon, uterine, and other cancers. He also recounted that he had tested...
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