Resumo

TROCHEZ, David M. et al. Polymorphisms of Low Penetrance Genes as Genetic Markers of Risk of Familial Breast Cancer among Colombian Wom. rev. cienc. [online]. 2014, vol.18, n.2, pp.51-61. ISSN 0121-1935.

Breast cancer is the most common female neoplasia worldwide. It's estimated that most cases are sporadic, though between 10 to 15% of them have a positive family history of the disease. This familial predisposition has been associated with alterations in genes involved in DNA's damage, detection and repair system; such as BRCA 1 and 2 genes, which are present in 25% of the cases and in the remaining 75% the action of alterations in genes with low penetrance is proposed. Objective: Determine the presence of two polymorphisms (T241M and G135C) in low penetrance genes XRCC3 and RAD51, respectively, and its association with the risk of developing familial breast cancer among Colombian women. Methodology: During one year (February 2011 - February 2012) an observational case-control study was made, with 53 women with active breast cancer and positive familiar history for the disease and 123 control healthy woman without personal or familiar history of the disease. Determining the presence -RAD51 G135C and XRCC3 T241M polymorphisms was realized by PCR-RFLP technique. For statistical analysis, the test of Hardy-Weinberg equilibrium was performed using 6.2 software GENEALEX and the exact test differentiation of Raymond & Rousset using the ARLEQUIN 3.1 software, in order to establish the existence or not of significant differences for the presence of polymorphisms. Main Results: Carrying the XRCC3 T241M variant was associated with a 1.7 times more risk of developing this disease. While, the RAD51 G135C gene variant showed no significant differences between cases and controls. Conclusion: These results suggest the determination of XRCC3 T241M polymorphism as a screening technique for the detection of women at high risk for familial breast cancer

Palavras-chave : Familial Breast Cancer; Hereditary Breast and Ovarian Cancer Syndrome [C04.588.180.483]; Risk Assessment [E05.318.740.600.800.715]; Risk Assessment [E05.318.740.600.800.715]; Genetic Testing [E01.370.225.562]; Polymorphism; Genetic [G05.365.795] XRCC3 T241M; RAD51 G135C.

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