Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.
OBJECTIVE
Genetic polymorphisms of DNA repair genes seem to determine the DNA repair capacity, which in turn may affect the risk of breast cancer. To evaluate the role of genetic polymorphisms of DNA repair genes in breast cancer, we conducted a hospital-based case-control study of Korean women.


METHODS
We included 872 incident breast cancer cases and 671 controls recruited from several teaching hospitals in Seoul from 1995 to 2002. Twelve loci of selected DNA repair genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (XRCC2 Arg188His, XRCC4 921G > T, XRCC6 1796G > T, LIG4 1977T/C, RAD51 135G > C, 172G > T, RAD52 2259C > T, LIG1 551A > C, ERCC1 8092A > C, 354C > T, hMLH1 -93G > A, and Ile219Val).


RESULTS
We found that the RAD52 2259 CT or TT, hMLH1 -93 GG, and ERCC1 8092 AA genotypes were associated with breast cancer risk after adjustment for known risk factors [odds ratio (OR), 1.33; 95% confidence interval (95% CI), 1.02-1.75; OR, 1.31; 95% CI, 0.99-1.74; and OR, 0.58; 95% CI, 0.38-0.89, respectively]. When Bonferroni's method was used to correct for multiple comparisons for nine polymorphisms with P = 0.005, all of these associations were not significant. However, the effects of RAD52 2259 CT or TT and ERCC1 354 CT or TT genotypes were more evident for the estrogen/progesterone receptor-negative cases (OR, 2.03; 95% CI, 1.24-3.34 and OR, 1.99; 95% CI, 1.35-2.94, respectively).


CONCLUSIONS
Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.
Lee
Kyoung-Mu
KM
Department of Preventive Medicine, Seoul National University College of Medicine, Chongno-Gu, Seoul, Korea.
Choi
Ji-Yeob
JY
Kang
Changwon
C
Kang
Changsoo Paul
CP
Park
Sue Kyung
SK
Cho
Hyunmi
H
Cho
Dae-Yeon
DY
Yoo
Keun-Young
KY
Noh
Dong-Young
DY
Ahn
Sei-Hyun
SH
Park
Chung-Gyu
CG
Wei
Qingyi
Q
Kang
Daehee
D
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002352:Carrier Proteins; D016022:Case-Control Studies; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D004720:Endonucleases / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D051721:Rad52 DNA Repair and Recombination Protein; D011960:Receptors, Estrogen / Q000032:analysis*; D011980:Receptors, Progesterone / Q000032:analysis*; D012307:Risk Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C497194:RAD52 protein, human; D051721:Rad52 DNA Repair and Recombination Protein; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; C071447:ERCC1 protein, human; D004720:Endonucleases; D000070957:MutL Protein Homolog 1