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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...
Tennis Star Chris Evert Teaches Us That Genetic Testing Is a Lifetime Match

Tennis Star Chris Evert Teaches Us That Genetic Testing Is a Lifetime Match

by Danielle Bonadies | Jan 17, 2022 | News

This weekend, Chris Evert tweeted that she was diagnosed with early-stage (Stage 1C) ovarian cancer, which is associated with an outstanding survival rate. This news is especially good because most people diagnosed with ovarian cancer are diagnosed at stage III or IV,...
VUS Reclassified to Suspected Deleterious: When Genetic Counseling Updates Become Lifesaving

VUS Reclassified to Suspected Deleterious: When Genetic Counseling Updates Become Lifesaving

by Danielle Bonadies | Nov 30, 2017 | Genetic Journal

Mary Ellen always knew that her family history included cancer. Her mom was diagnosed with breast cancer in her 50s and died in her 60s. Early-onset breast cancer, prostate cancer, and possible ovarian cancers were seen in aunts, uncles, and cousins. So, it was not...

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