有研究曾發(fā)現(xiàn),，與乳腺癌有關的基因BRCA1發(fā)生變異會顯著提高女性患乳腺癌的風險。由美國梅奧診所領導的一個國際科研小組在新一期英國學術刊物《自然·遺傳學》上報告說，當BRCA1基因發(fā)生變異使女性患乳腺癌的風險提高時,，另外5個基因的變異會對這一風險產(chǎn)生影響,。
研究人員進行的全基因組關聯(lián)分析涉及11個國家的20個研究中心。第一組研究對象是1193名攜帶BRCA1變異基因且患有浸潤性乳腺癌的40歲以下婦女,。研究人員分析了上述婦女基因組中總共約55萬個基因變異,，然后將這些變異與第二組研究對象的全部基因變異進行對比分析。后者的總人數(shù)為1190名,，她們都是攜帶BRCA1變異基因卻沒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個單核苷酸多態(tài)性（SNP）,，并在兩個更大的樣本中進行了類似對比,。結果發(fā)現(xiàn)，位于19p13染色體某區(qū)域的5個基因的變異,，與攜帶BRCA1變異基因的婦女患乳腺癌的幾率密切相關,。（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)).
