生物谷报道：一项大规模的遗传学研究鉴定出四个新基因，它们可显著影响妇女罹患乳腺癌的风险。作出此项发现的研究小组成员剑桥大学Douglas Easton说，该研究结果可使医生更为准确地预测乳腺癌风险，并为预防和治疗这种疾病提供了指导。但更为重要的是，它可能还透露了该病的发病机制。他进一步指出，“起先我们并未意识到这些基因会与乳腺癌有关。”
乳腺癌是一种很强的遗传疾病，困扰了英美两国约九分之一的妇女。但直至目前，已鉴定的基因仅仅只占了致病遗传因素的四分之一左右。为了寻找其他诱发乳腺癌的基因，Easton及其同仁比较分析了约4400名乳腺癌妇女和4300名未患乳腺癌妇女的基因组。他们鉴定出30个可能与该病相关的DNA碱基位点，继而分别在两万余名乳腺癌妇女和未患有乳腺癌妇女中对这些位点进行了比较分析。研究结果发表在这期的《Nature》杂志上。
新发现的基因中有三个参与控制了细胞生长。其中与生长最为密切的基因是成纤维细胞生长因子受体2型，或FGFR2。Easton和同事发现，携带这种高致病风险基因两个拷贝的妇女——即16.%的人当中——与未带有该基因拷贝的女性相比而言，乳腺癌发病率上升了60%。
目前，对这些新发现的基因进行扫描还不足以预测妇女罹患乳腺癌的风险。但随着越来越多的遗传致病因素被鉴定出来，相信基因遗传图谱可为医生绘制出一张精细的罹病风险图。根据这张图谱，甚至还可能为患者开发出量身打造的治疗方案，这从而给预防或治疗乳腺癌带来了新的曙光。
FIGURE 1. Quantile–quantile plots for the test statistics (Cochran-Armitage 1 d.f. 2 trend tests) for stages 1 and 2.
a, Stage 1; b, stage 2. Black dots are the uncorrected test statistics. Red dots are the statistics corrected by the genomic control method ( = 1.03 for stage 1, = 1.06 for stage 2). Under the null hypothesis of no association at any locus, the points would be expected to follow the black line.
原文出处：
Genome-wide association study identifies novel breast cancer susceptibility loci
Douglas F. Easton etal
SUMMARY: Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the
Nature (27 May 2007) Article
Abstract | Full Text | PDF | Rights and permissions | Save this link
相关基因：
FGFR2：
Official Symbol: FGFR2 and Name: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) [Homo sapiens]
Other Aliases: BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
Other Designations: BEK fibroblast growth factor receptor; FGF receptor; bacteria-expressed kinase; fibroblast growth factor receptor 2; hydroxyaryl-protein kinase; keratinocyte growth factor receptor; protein tyrosine kinase, receptor like 14
Location: 10q26
Chromosome: 10 Annotation: NC_000010.9 (123347906..123227844, complement)
MIM: 176943
GeneID: 2263
