Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants

Nat Commun. 2020 Mar 5;11(1):1217. doi: 10.1038/s41467-020-15046-w.

Abstract

Known risk variants explain only a small proportion of breast cancer heritability, particularly in Asian women. To search for additional genetic susceptibility loci for breast cancer, here we perform a meta-analysis of data from genome-wide association studies (GWAS) conducted in Asians (24,206 cases and 24,775 controls) and European descendants (122,977 cases and 105,974 controls). We identified 31 potential novel loci with the lead variant showing an association with breast cancer risk at P < 5 × 10-8. The associations for 10 of these loci were replicated in an independent sample of 16,787 cases and 16,680 controls of Asian women (P < 0.05). In addition, we replicated the associations for 78 of the 166 known risk variants at P < 0.05 in Asians. These findings improve our understanding of breast cancer genetics and etiology and extend previous findings from studies of European descendants to Asian women.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Asians / genetics*
  • Breast Neoplasms / genetics*
  • Female
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Humans
  • Multifactorial Inheritance / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics
  • Receptors, Estrogen / metabolism
  • Risk Factors
  • Whites / genetics*

Substances

  • Receptors, Estrogen