BRCA2 arg372hispolymorphism and epithelial ovarian cancer risk

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 A...

Full description

Saved in:
Bibliographic Details
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
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0020-7136
1097-0215
DOI:10.1002/ijc.10814