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Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History

Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History

by Danielle Bonadies | Apr 8, 2024 | Genetic Testing Challenges in Oncology, News

A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also undergoing egg retrieval for in vitro fertilization and had told her doctor she would consider pre-implantation...
Full Family History Helps ID Lynch Syndrome Founder Variant

Full Family History Helps ID Lynch Syndrome Founder Variant

by Danielle Bonadies | Feb 16, 2024 | Genetic Testing Challenges in Oncology, News

A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient’s family history also revealed a paternal relative with pancreatic cancer which, in addition to his Ashkenazi Jewish ancestry, prompted the GC to...

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