BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk

Int J Cancer. 2003 Jan 20;103(3):427-30. doi: 10.1002/ijc.10814.


The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer. We investigated whether this polymorphism was associated with ovarian cancer risk by conducting British and Australian case-control comparisons in parallel, including a total sample of 1,121 ovarian cancer cases and 2,643 controls. There was no difference in genotype frequency between control groups from the 2 studies (p = 0.9). The HH genotype was associated with an increased risk of ovarian cancer in both studies, and the risk estimate for the pooled studies was 1.36 (95% CI 1.04-1.77, p = 0.03). There was also a suggestion that this risk may be greater for ovarian cancers of the serous subtype for both studies, with an OR (95% CI) of 1.66 (1.17-2.54) for the 2 studies combined (p = 0.005). The BRCA2 372 HH genotype appears to be associated with an increased risk of ovarian cancer of a similar magnitude to that reported for breast cancer.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Clear Cell / genetics
  • Adenocarcinoma, Mucinous / genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA2 Protein / genetics*
  • Carcinoma, Endometrioid / genetics
  • Case-Control Studies
  • Cystadenocarcinoma, Serous / genetics
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Middle Aged
  • Neoplasm Invasiveness / genetics
  • Neoplasms, Glandular and Epithelial / genetics*
  • Ovarian Neoplasms / genetics*
  • Polymorphism, Genetic*
  • Risk Factors


  • BRCA2 Protein