DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.
The DNA repair pathway is known to play a role in the etiology of breast cancer. A number of studies have demonstrated that common germline variants in genes involved in the DNA repair pathway influence breast cancer risk. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 12 single nucleotide polymorphisms (SNPs) in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. We found significant associations with breast cancer for SNPs in the BRCA2 and MRE11A genes. Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08-1.83, P = 0.01) with P (trend) = 0.0076. Homozygous carriers of the MRE11A rs601341 A allele had an increased risk of breast cancer (OR = 1.36, 95% CI 1.08-1.71, P = 0.009) with P (trend) = 0.0087. This study suggests that genetic variants in BRCA2 and MRE11A are associated with breast cancer risk.
Department of Electron Microscope/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6, International Airport Ave., Ayios Dometios, P.O. Box 23462, 1683, Nicosia, Cyprus.
Maria A
MA
Loizidou
Thalia
T
Michael
Susan L
SL
Neuhausen
Robert F
RF
Newbold
Yiola
Y
Marcou
Eleni
E
Kakouri
Maria
M
Daniel
Panayiotis
P
Papadopoulos
Simos
S
Malas
Andreas
A
Hadjisavvas
Kyriacos
K
Kyriacou
D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D003535:Cyprus / Q000453:epidemiology; D004260:DNA Repair; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D000076228:MRE11 Homologue Protein; D008875:Middle Aged; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004268:DNA-Binding Proteins; C121766:MRE11 protein, human; D000076228:MRE11 Homologue Protein; D045643:DNA Repair Enzymes