title: Germ line and somatic mutations of BRAF V599E in ovarian carcinoma.
abstract: 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.
authors.affiliation: Cytopathology and Gynecology, Osaka Cancer Prevention and Detection Center, Osaka, Japan. mueda@gan-osaka.jp
authors.forename: M
authors.initials: M
authors.lastname: Ueda
authors.forename: E
authors.initials: E
authors.lastname: Toji
authors.forename: S
authors.initials: S
authors.lastname: Noda
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018293:Cystadenoma, Serous / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf