Endometrial Cancer in a Family With RAD51D Gene Mutation

Abstract

RAD51 complex plays an important role in homologous recombination deficiency and germline mutations have a well-documented association with breast and tubo-ovarian carcinoma, as well as serous-type endometrial carcinoma. We report a family of French Canadian ancestry with a germline mutation in RAD51D and two sisters presenting with endometrial carcinoma, endometrioid-type. The risk factors for endometrial adenocarcinoma, endometrioid-type are discussed in the context of the RAD51-associated carcinomas described to date.