Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.

作者: Simon N Stacey , Andrei Manolescu , Patrick Sulem , Steinunn Thorlacius , Sigurjon A Gudjonsson

DOI: 10.1038/NG.131

关键词:

摘要: We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases 33,016 controls identified two SNPs (rs4415084 rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P 2.5 x 10(-12) rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive favorable prognosis. A recently reported signal FGFR2 also found to associate specifically cancer.

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