BRCA2 arg372hispolymorphism and epithelial ovarian cancer risk

• Published in: International journal of cancer 2003-01, Vol.103 (3), p.427-430
• Main Authors: Auranen, Annika, Spurdle, Amanda B., Chen, Xiaoqing, Lipscombe, Julian, Purdie, David M., Hopper, John L., Green, Adele, Healey, Catherine S., Redman, Karen, Dunning, Alison M., Pharoah, Paul D., Easton, Douglas F., Ponder, Bruce A.J., Chenevix‐Trench, Georgia, Novik, Karen L.
• Format: Article
• Language: English
• Subjects: Adenocarcinoma, Clear Cell - genetics; Adenocarcinoma, Mucinous - genetics; Adult; Aged; Aged, 80 and over; BRCA2; 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 cancer; Ovarian Neoplasms - genetics; polymorphism; Polymorphism, Genetic; Risk Factors
• ISSN: 0020-7136; 1097-0215
• 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. © 2002 Wiley‐Liss, Inc.