5号染色体短臂12区的常见变异会增加雌激素受体阳性乳腺癌的易感性。

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

作者信息

Stacey Simon N, Manolescu Andrei, Sulem Patrick, Thorlacius Steinunn, Gudjonsson Sigurjon A, Jonsson Gudbjörn F, Jakobsdottir Margret, Bergthorsson Jon T, Gudmundsson Julius, Aben Katja K, Strobbe Luc J, Swinkels Dorine W, van Engelenburg K C Anton, Henderson Brian E, Kolonel Laurence N, Le Marchand Loic, Millastre Esther, Andres Raquel, Saez Berta, Lambea Julio, Godino Javier, Polo Eduardo, Tres Alejandro, Picelli Simone, Rantala Johanna, Margolin Sara, Jonsson Thorvaldur, Sigurdsson Helgi, Jonsdottir Thora, Hrafnkelsson Jon, Johannsson Jakob, Sveinsson Thorarinn, Myrdal Gardar, Grimsson Hlynur Niels, Sveinsdottir Steinunn G, Alexiusdottir Kristin, Saemundsdottir Jona, Sigurdsson Asgeir, Kostic Jelena, Gudmundsson Larus, Kristjansson Kristleifur, Masson Gisli, Fackenthal James D, Adebamowo Clement, Ogundiran Temidayo, Olopade Olufunmilayo I, Haiman Christopher A, Lindblom Annika, Mayordomo Jose I, Kiemeney Lambertus A, Gulcher Jeffrey R, Rafnar Thorunn, Thorsteinsdottir Unnur, Johannsson Oskar T, Kong Augustine, Stefansson Kari

机构信息

deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland.

出版信息

Nat Genet. 2008 Jun;40(6):703-6. doi: 10.1038/ng.131. Epub 2008 Apr 27.

DOI:10.1038/ng.131

PMID:18438407

Abstract

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.

摘要

我们开展了一项乳腺癌易感性的全基因组关联研究，并进行了重复和优化研究，涉及6145例病例和33016例对照，在5号染色体短臂12区（5p12）上鉴定出两个单核苷酸多态性位点（SNP，rs4415084和rs10941679），它们会增加风险，尤其对于雌激素受体（ER）阳性肿瘤（rs10941679的比值比[OR]=1.27，P=2.5×10⁻¹²）。最近的基因MRPS30之前被认为与细胞凋亡、ER阳性肿瘤及良好预后有关。最近报道的FGFR2中的一个信号也被发现与ER阳性乳腺癌特异性相关。