Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
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DOI：
10.1038/ng.131
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发表时间：
2008-06-01
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
--
作者：
Stacey, Simon N.;Manolescu, Andrei;Stefansson, Kari
我们开展了一项乳腺癌易感性的全基因组关联研究，包括6,145例病例和33,016例对照，并确定了5p12上的两个snp （rs4415084和rs10941679）具有风险，优先用于雌激素受体（ER）阳性肿瘤（OR = 1.27, P = 2.5 × 10(-12) rs10941679）。最近的基因MRPS30先前与细胞凋亡、er阳性肿瘤和良好预后有关。最近报道的FGFR2信号也被发现与er阳性乳腺癌特异性相关。
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 x 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.