生物谷報(bào)道：一項(xiàng)大規(guī)模的遺傳學(xué)研究鑒定出四個(gè)新基因,，它們可顯著影響婦女罹患乳腺癌的風(fēng)險(xiǎn)。作出此項(xiàng)發(fā)現(xiàn)的研究小組成員劍橋大學(xué)Douglas Easton說(shuō),，該研究結(jié)果可使醫(yī)生更為準(zhǔn)確地預(yù)測(cè)乳腺癌風(fēng)險(xiǎn)，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(jī)制。他進(jìn)一步指出,，“起先我們并未意識(shí)到這些基因會(huì)與乳腺癌有關(guān),。”
乳腺癌是一種很強(qiáng)的遺傳疾病，困擾了英美兩國(guó)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(gè)可能與該病相關(guān)的DNA堿基位點(diǎn)，繼而分別在兩萬(wàn)余名乳腺癌婦女和未患有乳腺癌婦女中對(duì)這些位點(diǎn)進(jìn)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(gè)參與控制了細(xì)胞生長(zhǎng)。其中與生長(zhǎng)最為密切的基因是成纖維細(xì)胞生長(zhǎng)因子受體2型,，或FGFR2,。Easton和同事發(fā)現(xiàn)，攜帶這種高致病風(fēng)險(xiǎn)基因兩個(gè)拷貝的婦女——即16.%的人當(dāng)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(duì)這些新發(fā)現(xiàn)的基因進(jìn)行掃描還不足以預(yù)測(cè)婦女罹患乳腺癌的風(fēng)險(xiǎn),。但隨著越來(lái)越多的遺傳致病因素被鑒定出來(lái),，相信基因遺傳圖譜可為醫(yī)生繪制出一張精細(xì)的罹病風(fēng)險(xiǎn)圖。根據(jù)這張圖譜,，甚至還可能為患者開(kāi)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(lái)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
