研究人员在近日在线出版的《自然—遗传学》（Nature Genetics）上报告说，第5号染色体上两种普通基因的变异可能会增加患某种乳腺癌的风险。
以前的研究显示，第5号染色体上某个区域可能含有增加乳腺癌风险的变异。通过对6000名乳腺癌患者和3万名对照受试者的测定，Simon Stacey和同事对5号染色体这一区域中出现的10多种变异基因进行了评估。他们发现，其中两种变异在乳腺癌患者体内尤为普遍，特别是那些表达出雌激素受体的患者。最靠近这一区域的基因名为MRPS30,它负责编码一种在线粒体中发现的蛋白质，这种蛋白质与细胞的死亡有关。（生物谷Bioon.com）
生物谷推荐原始出处：
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.
