研究人員在近日在線出版的《自然—遺傳學(xué)》（Nature Genetics）上報(bào)告說,，第5號(hào)染色體上兩種普通基因的變異可能會(huì)增加患某種乳腺癌的風(fēng)險(xiǎn)。
以前的研究顯示,，第5號(hào)染色體上某個(gè)區(qū)域可能含有增加乳腺癌風(fēng)險(xiǎn)的變異,。通過對(duì)6000名乳腺癌患者和3萬名對(duì)照受試者的測(cè)定,，Simon Stacey和同事對(duì)5號(hào)染色體這一區(qū)域中出現(xiàn)的10多種變異基因進(jìn)行了評(píng)估。他們發(fā)現(xiàn),，其中兩種變異在乳腺癌患者體內(nèi)尤為普遍,，特別是那些表達(dá)出雌激素受體的患者。最靠近這一區(qū)域的基因名為MRPS30,它負(fù)責(zé)編碼一種在線粒體中發(fā)現(xiàn)的蛋白質(zhì),，這種蛋白質(zhì)與細(xì)胞的死亡有關(guān),。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics，40, 703 - 706,，Simon N Stacey,，Kari Stefansson
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer
We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 10- 12 for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.
