Harley Ian, Rosen Barry, Risch Harvey A, Siminovitch Kathy, Beiner Mario E, McLaughlin John, Sun Ping, Narod Steven A
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Toronto, ON, Canada.
Gynecol Oncol. 2008 Jun;109(3):384-7. doi: 10.1016/j.ygyno.2007.11.046. Epub 2008 Apr 10.
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.
We genotyped 899 women with invasive ovarian cancer and 931 controls for the G>A nt-93 variant.
The presence of the variant was associated with a modest, but highly significant risk of ovarian cancer (OR=1.5; 95% CI 1.3-1.9; p=0.00005). The association was present in cancers of all histologies except clear cell, and in all ethnic groups.
The G>A nt-93 variant of the MLH1 gene is associated with an increased risk of invasive ovarian cancer.
MLH1基因的遗传性突变与一部分遗传性非息肉病性结直肠癌综合征(HNPCC)家族相关。该综合征的主要特征是易患结肠癌、子宫内膜癌和卵巢癌。最近研究表明,MLH1基因中的一种非编码多态性变体(G>A nt-93)易患结肠癌和子宫内膜癌,但外显率大大降低。我们试图确定这种多态性变体是否也易患卵巢癌。
我们对899例浸润性卵巢癌女性和931例对照进行了G>A nt-93变体的基因分型。
该变体的存在与卵巢癌风险适度但高度显著相关(OR=1.5;95%CI 1.3-1.9;p=0.00005)。除透明细胞癌外,所有组织学类型的癌症以及所有种族中均存在这种关联。
MLH1基因的G>A nt-93变体与浸润性卵巢癌风险增加相关。