Article
Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.
Cancer prevention research (Philadelphia, Pa.) - 2 May 2024
Kipnis Lindsay M, Breen Katelyn M, Koeller Diane R, Levine Alison Schwartz, Yang Zelei, Jun Hyeji, Tayob Nabihah, Stokes Samantha M, Hayes Connor P, Ghazani Arezou A, Hill Sarah J, Rana Huma Q
Abstract excerpt
Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a...
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