Didactics-Germline Genetic Testing for Endometrial Cancer

Germline Genetic Testing for Endometrial Cancer

Video Transcription

Video Summary

The speaker discusses universal germline genetic testing for endometrial cancer, focusing on its potential for identifying inherited susceptibilities, predominantly Lynch syndrome. Current practice often uses IHC or microsatellite instability testing, followed by genetic counseling if needed. However, new guidelines advocate broader germline testing, including multi-gene panels, especially for patients under 50. This approach aims to increase sensitivity for detecting Lynch syndrome and other pathogenic mutations like BRCA1/2. Despite benefits, challenges include costs, increased variants of unknown significance, and limited impact on initial treatment decisions. The future standard of care remains uncertain, warranting further exploration.

Asset Subtitle

Kimberly Dessources
September 2024

Keywords

germline genetic testing

endometrial cancer

Lynch syndrome

multi-gene panels

pathogenic mutations