日前美国耶鲁大学研究人员表示，他们发现了一种可以预测卵巢癌患病风险的遗传标记。相关研究20日发表在美国《癌症研究》杂志网络版上。
研究人员发现，25%的卵巢癌患者体内都存在KRAS基因的一个变种，而普通人只有6%拥有这一变种；这一变种还在61%有乳腺癌及卵巢癌家族病史的卵巢癌患者体内出现。此外，与拥有其他致病基因变种的女性通常在年轻时患卵巢癌不同，拥有KRAS基因变种的女性更倾向于在绝经后患卵巢癌。
负责这项研究的耶鲁大学癌症中心治疗放射学副教授乔安妮·魏德哈斯表示，对拥有严重卵巢癌家族病史的女性而言，KRAS基因的变种可成为预测她们患卵巢癌风险的遗传标记之一。
卵巢癌是最致命的妇科癌症之一，早期很难诊断，患者的5年生存率在40%以下。(生物谷Bioon.com)
生物谷推荐原文出处：
Cancer Reserch doi: 10.1158/0008-5472.CAN-10-0689
A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk
Elena Ratner1, Lingeng Lu2, Marta Boeke3, Rachel Barnett4, Sunitha Nallur3, Lena J. Chin6, Cory Pelletier3, Rachel Blitzblau3, Renata Tassi7, Trupti Paranjape3, Pei Hui5, Andrew K. Godwin8, Herbert Yu2, Harvey Risch2, Thomas Rutherford1, Peter Schwartz1, Alessandro Santin1, Ellen Matloff4, Daniel Zelterman2, Frank J. Slack6, and Joanne B. Weidhaas3
Ovarian cancer (OC) is the single most deadly form of women's cancer, typically presenting as an advanced disease at diagnosis in part due to a lack of known risk factors or genetic markers of risk. The KRAS oncogene and altered levels of the microRNA (miRNA) let-7 are associated with an increased risk of developing solid tumors. In this study, we investigated a hypothesized association between an increased risk of OC and a variant allele of KRAS at rs61764370, referred to as the KRAS-variant, which disrupts a let-7 miRNA binding site in this oncogene. Specimens obtained were tested for the presence of the KRAS-variant from nonselected OC patients in three independent cohorts, two independent ovarian case-control studies, and OC patients with hereditary breast and ovarian cancer syndrome (HBOC) as well as their family members. Our results indicate that the KRAS-variant is associated with more than 25% of nonselected OC cases. Further, we found that it is a marker for a significant increased risk of developing OC, as confirmed by two independent case-control analyses. Lastly, we determined that the KRAS-variant was present in 61% of HBOC patients without BRCA1 or BRCA2 mutations, previously considered uninformative, as well as in their family members with cancer. Our findings strongly support the hypothesis that the KRAS-variant is a genetic marker for increased risk of developing OC, and they suggest that the KRAS-variant may be a new genetic marker of cancer risk for HBOC families without other known genetic abnormalities.
