Tiffany Y Sia, Sushmita B Gordhandas, Ozge Birsoy, Yelena Kemel, Anna Maio, Erin Salo-Mullen, Margaret Sheehan, Martee L Hensley, Maria Rubinstein, Vicky Makker, Rachel N Grisham, Roisin E O'Cearbhaill, Kara Long Roche, Jennifer J Mueller, Mario M Leitao, Yukio Sonoda, Dennis S Chi, Nadeem R Abu-Rustum, Michael F Berger, Lora H Ellenson, Alicia Latham, Zsofia Stadler, Kenneth Offit, Carol Aghajanian, Britta Weigelt, Diana Mandelker, Ying L Liu
OBJECTIVES: To describe the prevalence of germline pathogenic variants (gPVs) in endometrial and ovarian carcinosarcomas and determine if gPVs are drivers of carcinosarcoma. METHODS: Patients with endometrial or ovarian carcinosarcomas who underwent clinical tumor-normal sequencing from 1/1/2015 to 6/1/2021 and consented to germline assessment of ≥76 cancer predisposition genes were included. In patients with gPVs, biallelic inactivation was identified through analysis of loss of heterozygosity and somatic pathogenic alterations...
July 2023: Gynecologic Oncology