title: BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk.
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.
authors.affiliation: CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK.
authors.forename: Annika
authors.initials: A
authors.lastname: Auranen
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Chen
authors.forename: Julian
authors.initials: J
authors.lastname: Lipscombe
authors.forename: David M
authors.initials: DM
authors.lastname: Purdie
authors.forename: John L
authors.initials: JL
authors.lastname: Hopper
authors.forename: Adele
authors.initials: A
authors.lastname: Green
authors.forename: Catherine S
authors.initials: CS
authors.lastname: Healey
authors.forename: Karen
authors.initials: K
authors.lastname: Redman
authors.forename: Alison M
authors.initials: AM
authors.lastname: Dunning
authors.forename: Paul D
authors.initials: PD
authors.lastname: Pharoah
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Bruce A J
authors.initials: BA
authors.lastname: Ponder
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
authors.forename: Karen L
authors.initials: KL
authors.lastname: Novik
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics; D002288:Adenocarcinoma, Mucinous / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein / Q000235:genetics*; D018269:Carcinoma, Endometrioid / Q000235:genetics; D016022:Case-Control Studies; D018284:Cystadenocarcinoma, Serous / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009361:Neoplasm Invasiveness / Q000235:genetics; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D024682:BRCA2 Protein