Germline drivers of gynecologic carcinosarcoma
GYNECOLOGIC ONCOLOGY(2023)
Abstract
•In this cohort of patients with gynecologic carcinosarcomas, 13% had a germline pathogenic variant (gPV).•In endometrial carcinosarcoma, 8 (89%) of 9 gPVs in high-penetrance genes exhibited biallelic inactivation.•In ovarian carcinosarcoma, all 6 gPVs in high-penetrance genes exhibited biallelic inactivation.•All gPVs in homologous recombination and Lynch syndrome-related genes had biallelic loss in tumors.•Germline testing of patients with gynecologic carcinosarcomas is important, as some gPVs drive carcinosarcoma development.
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Key words
Germline pathogenic variants,Genetic testing,Endometrial carcinosarcoma,Ovarian carcinosarcoma,Gynecologic carcinosarcomas
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