Gene-gene interactions in breast cancer susceptibility.

Patrick Morrison

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


There have been few definitive examples of gene–gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10–4; ATMand BRCA1P= 0.01; ATM and BRCA2P= 0.02; CHEK2 and BRCA1/BRCA2combined, P = 2.1 × 10−4; CHEK2 and BRCA1P= 0.01; CHEK2 and BRCA2P= 0.01). The interactions are such that the resultant risk of breast cancer is lower than the multiplicative product of the constituent risks, and plausibly reflect the functional relationships of the encoded proteins in DNA repair. These findings have important implications for models of disease predisposition and clinical translation.
Original languageEnglish
Pages (from-to)958-962
Number of pages5
JournalHuman Molecular Genetics
Issue number4
Early online date09 Nov 2011
Publication statusPublished - 15 Feb 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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