Original Research Article
Year: 2016 | Month: November | Volume: 6 | Issue: 11 | Pages: 24-32
Role of Genetic Polymorphisms in XRCC4, XRCC5, XRCC6 and XRCC7 in Breast Cancer Susceptibility in Rural Indian Population: A Hospital Based Case-Control Study from Maharashtra
Madhavi N. Patil1, Kailas D. Datkhile1, Suresh J. Bhosale2, Pandurang G. Chougule2, Rohit D.Vhaval1, Tejasvi S. Khamkar1, Pratik P. Durgawale1, Satish V. Kakade3
1Molecular & Genetic Laboratory, 2Department of Surgery, 3Department of Preventive and Social Medicine,
Krishna Institute of Medical Sciences University, Taluka-Karad, Dist-Satara, Maharashtra, India.
Corresponding Author: Kailas D. Datkhile
ABSTRACT
Background & Objectives: Breast cancer is a major concern of health risk, moreover leading cause of cancer causing deaths in women of rural parts of India. In this study, to identify the role of genetic risk factors in the development of breast cancer, functional polymorphisms of DNA repair genes including XRCC4 at codon 247, XRCC4 G1394T, XRCC4 intron7, XRCC5 2R/1R/0R, XRCC6 61 (C>G) and XRCC7 6721 (G>T) were studied among rural population of Maharashtra.
Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze XRCCgenes polymorphisms in 150 breast cancer women and 200 age and sex matched disease-free controls.
Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XRCC4 (cd247, G1394T, intron 7) and XRCC6 (-61C>G). XRCC5 1R/0R (OR= 3.21; 95% CI= (2.06-5.02); p= <0.0001) and XRCC7 6721 G/T (OR= 2.94; 95% CI= (1.88-4.61); p= <0.0001) genotypes significantly increased the risk of breast cancer.
Interpretation & Conclusions: This study indicates that XRCC5 1R/0R polymorphisms and heterozygote allele 6721G/T of XRCC6 could play a role in modifying genetic susceptibility of individuals towards breast cancer among women from rural Maharashtra. It is also apparent from our findings that larger part of the female had age at first delivery lower than 20 years which could be the probable risk factor for development of breast cancer. Thus, the case-control study suggest that selected DNA repair genes represent genetic determinants in breast carcinogenesis along with other risk factors in the rural Indian population.
Key words: Breast cancer, Genetic polymorphisms, PCR-RFLP, XRCC4, XRCC5, XRCC6, XRCC7.