Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1

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• 作者：Ian Harley ; Barry Rosen ; Harvey A. Risch ; Kathy Siminovitch ; Mario E. Beiner ; John McLaughlin ; Ping Sun ; Steven A. Narod
• 关键词：Ovarian cancer ; MLH1 ; Association ; Mismatch repair
• 刊名：Gynecologic Oncology
• 出版年：2008
• 出版时间：June 2008
• 年：2008
• 卷：109
• 期：3
• 页码：384-387
• 全文大小：129 K

文摘

Inherited mutations in the MLH1 gene are associated with a proportion of families with the hereditary non-polyposis colon cancer syndrome (HNPCC). The cardinal features of the syndrome are a predisposition to colon, endometrial and ovarian cancers. Recently, it has been shown that a non-coding polymorphic variant in MLH1 (G>A nt-93) predisposes to colon and endometrial cancer, but with much reduced penetrance. We sought to establish whether or not this polymorphic variant also predisposes to ovarian cancer.