生物谷報道：一項大規(guī)模的遺傳學研究鑒定出四個新基因,，它們可顯著影響婦女罹患乳腺癌的風險,。作出此項發(fā)現(xiàn)的研究小組成員劍橋大學Douglas Easton說,，該研究結(jié)果可使醫(yī)生更為準確地預(yù)測乳腺癌風險，并為預(yù)防和治療這種疾病提供了指導(dǎo)。但更為重要的是，它可能還透露了該病的發(fā)病機制,。他進一步指出，“起先我們并未意識到這些基因會與乳腺癌有關(guān),。”
乳腺癌是一種很強的遺傳疾病,，困擾了英美兩國約九分之一的婦女。但直至目前,，已鑒定的基因僅僅只占了致病遺傳因素的四分之一左右,。為了尋找其他誘發(fā)乳腺癌的基因，Easton及其同仁比較分析了約4400名乳腺癌婦女和4300名未患乳腺癌婦女的基因組,。他們鑒定出30個可能與該病相關(guān)的DNA堿基位點,，繼而分別在兩萬余名乳腺癌婦女和未患有乳腺癌婦女中對這些位點進行了比較分析。研究結(jié)果發(fā)表在這期的《Nature》雜志上,。
新發(fā)現(xiàn)的基因中有三個參與控制了細胞生長。其中與生長最為密切的基因是成纖維細胞生長因子受體2型,，或FGFR2,。Easton和同事發(fā)現(xiàn)，攜帶這種高致病風險基因兩個拷貝的婦女——即16.%的人當中——與未帶有該基因拷貝的女性相比而言,，乳腺癌發(fā)病率上升了60%,。
目前，對這些新發(fā)現(xiàn)的基因進行掃描還不足以預(yù)測婦女罹患乳腺癌的風險,。但隨著越來越多的遺傳致病因素被鑒定出來,，相信基因遺傳圖譜可為醫(yī)生繪制出一張精細的罹病風險圖。根據(jù)這張圖譜,，甚至還可能為患者開發(fā)出量身打造的治療方案,，這從而給預(yù)防或治療乳腺癌帶來了新的曙光。
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.
原文出處：
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
相關(guān)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
