Common variants in breast cancer risk loci predispose to distinct tumor subtypes

NBCS Collaborators, ABCTB Investigators, kConFab/AOCS Investigators

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Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate 
Original languageEnglish
Article number2
Number of pages13
JournalBreast Cancer Research
Issue number1
Early online date04 Jan 2022
Publication statusEarly online date - 04 Jan 2022


  • Genetic predisposition
  • Etiologic heterogeneity
  • Breast cancer
  • Common breast cancer susceptibility variants


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