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

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

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.

Publication types

  • Comparative Study
  • Multicenter Study
  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / metabolism
  • Adenocarcinoma / pathology
  • Adult
  • Aged
  • Aged, 80 and over
  • Apoptosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / metabolism
  • Breast Neoplasms / pathology
  • Carcinoma, Ductal, Breast / genetics
  • Carcinoma, Ductal, Breast / metabolism
  • Carcinoma, Ductal, Breast / pathology
  • Carcinoma, Intraductal, Noninfiltrating / genetics
  • Carcinoma, Intraductal, Noninfiltrating / metabolism
  • Carcinoma, Intraductal, Noninfiltrating / pathology
  • Carcinoma, Lobular / genetics
  • Carcinoma, Lobular / metabolism
  • Carcinoma, Lobular / pathology
  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / metabolism
  • Carcinoma, Medullary / pathology
  • Case-Control Studies
  • Chromosomes, Human, Pair 5 / genetics*
  • Cohort Studies
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • International Agencies
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / metabolism
  • Receptors, Estrogen / metabolism*
  • Ribosomal Proteins / genetics
  • Ribosomal Proteins / metabolism

Substances

  • Receptors, Estrogen
  • Ribosomal Proteins
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2