Germ line and somatic mutations of BRAF V599E in ovarian carcinoma
Germ line and somatic mutations of BRAF V599E in ovarian carcinoma
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DOI：
10.1111/j.1525-1438.2006.00853.x
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发表时间：
2007-07-01
影响因子：
4.8
通讯作者：
Noda, S.
中科院分区：
文献类型：
--
作者：
Ueda, M.;Toji, E.;Noda, S.
研究表明，卵巢低度浆液性癌是从良性浆液性囊腺瘤到浆液性交界性肿瘤（SBT）再到微乳头状浆液性癌（MPSC）的逐步发展过程，BRAF激活是肿瘤发生中非常早期的体细胞事件。我们假设BRAF可能是SBT易感基因，并调查了104例卵巢癌患者BRAF V599E的生殖系和体细胞突变。BRAF V599 E突变在21例SBT中的5例（24%）、3例MPSC中的1例（33%）、6例类胶质瘤中的1例（17%）中发现，但在42例常规浆液性癌、12例粘液性交界性肿瘤、10例粘液性癌和10例透明细胞癌中未检测到。在这104例患者的血液样本中未检测到V599E突变。我们还在101名正常健康女性和10个成熟的卵巢癌细胞系中未发现BRAF V599E突变。我们的研究结果表明，BRAF基因在低级别浆液性癌的发展中起着“看门人”的作用，但不是一个易感基因。
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.