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BRCA1 Variant Downgraded After Risk-Reducing Surgery

BRCA1 Variant Downgraded After Risk-Reducing Surgery

by Caitlin Kingsley | 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...
Consumer Genomics Reveals More Than Fun Traits

Consumer Genomics Reveals More Than Fun Traits

by Caitlin Kingsley | Aug 3, 2021 | Genetic Testing Challenges in Oncology, News

Around a decade ago, a psychologist in her mid-50s attended a wellness conference, where everyone was discussing a popular direct-to-consumer genetic testing company. The possibility of learning about the underlying genetics of her inherited traits piqued her...
Inaccurate Patient Claims Complicate Cancer Risk Management

Inaccurate Patient Claims Complicate Cancer Risk Management

by Caitlin Kingsley | Jun 30, 2021 | Genetic Testing Challenges in Oncology, News

A 46-year-old woman who claimed to have pathogenic variants in both BRCA1 and BRCA2 genes and a strong family history of breast cancer came to a surgeon seeking risk-reducing mastectomies. Although this woman did not have breast cancer, based on her account of her...
Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal

Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal

by Caitlin Kingsley | May 28, 2021 | Genetic Testing Challenges in Oncology, News

A 36-year-old, non-English-speaking, female emigrant from the Middle East came to see a genetic counselor at a California healthcare system in 2019. She had recently moved to the state, and in the process of reestablishing care at a large academic healthcare facility,...
BRCA1-Positive Patient Told Paternal Cancer Risk Unimportant

BRCA1-Positive Patient Told Paternal Cancer Risk Unimportant

by Caitlin Kingsley | Apr 29, 2021 | Genetic Testing Challenges in Oncology, News

In the summer of 2019, a genetic counselor at an academic healthcare facility saw a 39-year-old African American woman who had been recently diagnosed with invasive ductal carcinoma. A mammogram and subsequent biopsy of the lump she had felt on her left breast turned...
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