BRCA2 arg372hispolymorphism and epithelial ovarian cancer risk

✍ Scribed by Annika Auranen; Amanda B. Spurdle; Xiaoqing Chen; Julian Lipscombe; David M. Purdie; John L. Hopper; Adele Green; Catherine S. Healey; Karen Redman; Alison M. Dunning; Paul D. Pharoah; Douglas F. Easton; Bruce A.J. Ponder; Georgia Chenevix-Trench; Karen L. Novik

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: French
• Weight: 70 KB
• Volume: 103
• Category: Article
• ISSN: 0020-7136
• DOI: 10.1002/ijc.10814

✦ Synopsis

Abstract

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. © 2002 Wiley‐Liss, Inc.