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 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.
Auranen
Annika
A
CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK.
Spurdle
Amanda B
AB
Chen
Xiaoqing
X
Lipscombe
Julian
J
Purdie
David M
DM
Hopper
John L
JL
Green
Adele
A
Healey
Catherine S
CS
Redman
Karen
K
Dunning
Alison M
AM
Pharoah
Paul D
PD
Easton
Douglas F
DF
Ponder
Bruce A J
BA
Chenevix-Trench
Georgia
G
Novik
Karen L
KL
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
D024682:BRCA2 Protein