A novel polymorphism in BRCA2 exon 8 and breast cancer risk in South India.

In India the incidence of breast cancer is on the rise and it is rapidly becoming the number one cancer in females, pushing cervical cancer to the second spot. The contribution of BRCA2 to the development of the sporadic form of breast cancer remains undefined. To assess the role of SNPs in exon 8 of the BRCA2 gene in breast cancer development in India, a population-based study was here carried out on 107 breast cancer patients and 96 controls by PCR-RFLP and DNA sequencing. T-C transitions at positions 29 bp and 44 bp in relation to the total sequence of exon 8 were identified. Characterization of BRCA genes is relevant in a prevention setting as well as for the clinical management of hereditary breast cancer patients. The presently identified novel mutation in exon8 of the BRCA2 gene might have clinical significance.