有研究曾發(fā)現(xiàn),，與乳腺癌有關(guān)的基因BRCA1發(fā)生變異會(huì)顯著提高女性患乳腺癌的風(fēng)險(xiǎn)。由美國(guó)梅奧診所領(lǐng)導(dǎo)的一個(gè)國(guó)際科研小組在新一期英國(guó)學(xué)術(shù)刊物《自然·遺傳學(xué)》上報(bào)告說(shuō),，當(dāng)BRCA1基因發(fā)生變異使女性患乳腺癌的風(fēng)險(xiǎn)提高時(shí),，另外5個(gè)基因的變異會(huì)對(duì)這一風(fēng)險(xiǎn)產(chǎn)生影響。
研究人員進(jìn)行的全基因組關(guān)聯(lián)分析涉及11個(gè)國(guó)家的20個(gè)研究中心,。第一組研究對(duì)象是1193名攜帶BRCA1變異基因且患有浸潤(rùn)性乳腺癌的40歲以下婦女,。研究人員分析了上述婦女基因組中總共約55萬(wàn)個(gè)基因變異，然后將這些變異與第二組研究對(duì)象的全部基因變異進(jìn)行對(duì)比分析,。后者的總?cè)藬?shù)為1190名,，她們都是攜帶BRCA1變異基因卻沒(méi)有患乳腺癌的同齡婦女。
隨后,，研究人員將基因分析的范圍縮小到96個(gè)單核苷酸多態(tài)性（SNP）,，并在兩個(gè)更大的樣本中進(jìn)行了類似對(duì)比。結(jié)果發(fā)現(xiàn),，位于19p13染色體某區(qū)域的5個(gè)基因的變異,，與攜帶BRCA1變異基因的婦女患乳腺癌的幾率密切相關(guān)。（生物谷Bioon.com）
生物谷推薦英文摘要：
Nature Genetics doi:10.1038/ng.669
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population
Antonis C Antoniou, Xianshu Wang, Zachary S Fredericksen et al.
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (Ptrend = 2.3 × 10?9 to Ptrend = 3.9 × 10?7), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17–1.35; rs2363956 HR = 0.84, 95% CI 0.80–0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor–negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75–0.92, Ptrend = 0.0003) and an association with estrogen receptor–positive disease in the opposite direction (OR = 1.07, 95% CI 1.01–1.14, Ptrend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 × 10(7) to Ptrend = 8 × 10(5); rs2363956 per-allele OR = 0.80, 95% CI 0.74–0.87, Ptrend = 1.1 × 10(7)).
