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Germ line and somatic mutations of BRAF V599E in ovarian carcinoma
  1. M. Ueda*,
  2. E. Toji* and
  3. S. Noda*
  1. *Cytopathology and Gynecology, Osaka Cancer Prevention and Detection Center, Osaka, Japan
  1. Address correspondence and reprint requests to: Masatsugu Ueda, MD, PhD, Cytopathology and Gynecology, Osaka Cancer Prevention and Detection Center, 1-6-107, Morinomiya, Joto-ku, Osaka 536-8588, Japan. Email: mueda{at}


It has been shown that ovarian low-grade serous carcinoma evolves out of a stepwise progression from benign serous cystadenoma to serous borderline tumor (SBT) to micropapillary serous carcinoma (MPSC), and that BRAF activation is a very early somatic event in the tumorigenesis. We postulated that BRAF could be a SBT susceptibility gene, and investigated both germ line and somatic mutations of BRAF V599E in 104 ovarian cancer patients. BRAF V599E mutation in histologic samples was found in 5 (24%) of 21 SBTs, 1 (33%) of 3 MPSCs, 1 (17%) of 6 endometrioid carcinomas, but not detected in 42 conventional serous carcinomas, 12 mucinous borderline tumors, 10 mucinous, and 10 clear-cell carcinomas. No V599E mutation could be detected in blood samples from these 104 patients. We also found no BRAF V599E mutation in 101 normal healthy women and 10 well-established ovarian cancer cell lines. Our results suggest that BRAF gene plays a “gatekeeper” role but does not act as a predisposition gene in the development of low-grade serous carcinomas

  • BRAF V599E
  • mutational analysis
  • ovarian tumorigenesis

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