一种寻找低外显率乳腺癌和前列腺癌基因的候选基因方法。

A candidate gene approach to searching for low-penetrance breast and prostate cancer genes.

作者信息

Hunter D J, Riboli E, Haiman C A, Albanes D, Altshuler D, Chanock S J, Haynes R B, Henderson B E, Kaaks R, Stram D O, Thomas G, Thun M J, Blanché H, Buring J E, Burtt N P, Calle E E, Cann H, Canzian F, Chen Y C, Colditz G A, Cox D G, Dunning A M, Feigelson H S, Freedman M L, Gaziano J M, Giovannucci E, Hankinson S E, Hirschhorn J N, Hoover R N, Key T, Kolonel L N, Kraft P, Le Marchand L, Liu S, Ma J, Melnick S, Pharaoh P, Pike M C, Rodriguez C, Setiawan V W, Stampfer M J, Trapido E, Travis R, Virtamo J, Wacholder S, Willett W C

出版信息

Nat Rev Cancer. 2005 Dec;5(12):977-85. doi: 10.1038/nrc1754.

DOI:10.1038/nrc1754

PMID:16341085

Abstract

Most cases of breast and prostate cancer are not associated with mutations in known high-penetrance genes, indicating the involvement of multiple low-penetrance risk alleles. Studies that have attempted to identify these genes have met with limited success. The National Cancer Institute Breast and Prostate Cancer Cohort Consortium--a pooled analysis of multiple large cohort studies with a total of more than 5,000 cases of breast cancer and 8,000 cases of prostate cancer--was therefore initiated. The goal of this consortium is to characterize variations in approximately 50 genes that mediate two pathways that are associated with these cancers--the steroid-hormone metabolism pathway and the insulin-like growth factor signalling pathway--and to associate these variations with cancer risk.

摘要

大多数乳腺癌和前列腺癌病例与已知的高外显率基因的突变无关，这表明存在多个低外显率风险等位基因。试图识别这些基因的研究取得的成功有限。因此，启动了美国国家癌症研究所乳腺癌和前列腺癌队列联盟，该联盟对多个大型队列研究进行汇总分析，共有5000多例乳腺癌病例和8000例前列腺癌病例。该联盟的目标是对大约50个基因的变异进行特征描述，这些基因介导了与这些癌症相关的两条途径——类固醇激素代谢途径和胰岛素样生长因子信号传导途径，并将这些变异与癌症风险联系起来。