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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...
What You Need To Know About New NCCN Guideline Updates

What You Need To Know About New NCCN Guideline Updates

by Danielle Bonadies | Oct 4, 2017 | Genetic Journal

The National Comprehensive Cancer Network (NCCN) provides guidelines to help determine who should have genetic testing for hereditary cancers and how individuals should be followed after testing. They recently published updates to these guidelines that we’ve...
TweetChat: Lynch Syndrome and Other Hereditary Colon Cancer Syndromes

TweetChat: Lynch Syndrome and Other Hereditary Colon Cancer Syndromes

by Danielle Bonadies | Apr 3, 2017 | Genetic Journal

To conclude Lynch Syndrome and Colorectal Cancer Awareness Month, we held a tweetchat, #GenCSM, with our phenomenal co-hosts Georgia Hurst and Amy Byer Shainman and special guest Heather Hampel, MS, LGC. Hampel is a genetic counselor at The Ohio State University...
Beyond BRCA: TP53 and Li-Fraumeni Syndrome

Beyond BRCA: TP53 and Li-Fraumeni Syndrome

by Danielle Bonadies | Jan 20, 2017 | Genetic Journal

Genetic Counseling Note:  TP53 is a gene located on chromosome 17p that is often mutated, or changed, in tumors.  However, some people are born carrying one mutation in the TP53 gene in all of their cells.  These mutations are called germline mutations,...

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