Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study
作者： João Conde , Susana N Silva , Ana P Azevedo , Valdemar Teixeira , Julieta Esperança Pina
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摘要: MMR is responsible for the repair of base-base mismatches and insertion/deletion loops. Besides this, also associated with an anti-recombination function, suppressing homologous recombination. Losses heterozygosity and/or microsatellite instability have been detected in a large number skin samples from breast cancer patients, suggesting potential role susceptibility. We carried out hospital-based case-control study Caucasian Portuguese population (287 cases 547 controls) to estimate susceptibility non-familial some polymorphisms mismatch genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 MUTYH). Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) AA (Pro/Pro) genotypes were decreased risk: OR = 0.65 (0.45-0.95) (p 0.03) 0.62 (0.41-0.94) 0.03), respectively. Analysis two-way SNP interaction effects on revealed two associations susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR 0.43 (0.21-0.83), p 0.01] risk; MSH4 Ala97Thr/MLH3 Leu844Pro AG/AA 2.35 (1.23-4.49), 0.01], GG/AA 2.11 (1.12-3,98), 0.02], GG/AG [adjusted 1.88 (1.12-3.15), 0.02] all increased risk cancer. It possible these common variants contribute significantly However, further studies sample size will be needed support our results.
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