Didactics-Germline Genetic testing for Gynaecologists

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Video Summary

The lecture discusses hereditary cancer syndromes, particularly focusing on gynecological cancers such as ovarian and endometrial cancer. Around 5-10% of cancers, including gynecological ones, are due to pathogenic germline genetic variants, with BRCA1 and BRCA2 being predominant among ovarian cancer-linked genes. Lynch syndrome is also significant for ovarian and endometrial cancers. The importance of both universal germline genetic testing and thorough family history for detecting hereditary cancer risks is emphasized. Genetic counseling is critical before and after testing to manage patient expectations and address potential psychological impacts. Various case studies illustrate the process and interpretation of genetic testing. Mainstreaming genetic testing within gynecology practices through clear guidelines and specific training workshops is advocated to improve familial cancer risk management and therapeutic decision-making.

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Dr. Samuel Ow
Marcy 2024

Keywords

hereditary cancer syndromes

gynecological cancers

BRCA1 BRCA2

Lynch syndrome

genetic testing

genetic counseling