A Novel Polymorphism in BRCA2 Exon 8 and Breast Cancer Risk in South India

Abstract

In India the incidence of breast cancer is on the rise and it is rapidly becoming the number one cancer infemales, pushing cervical cancer to the second spot. The contribution of BRCA2 to the development of the sporadicform of breast cancer remains undefined. To assess the role of SNPs in exon 8 of the BRCA2 gene in breastcancer development in India, a population-based study was here carried out on 107 breast cancer patients and96 controls by PCR-RFLP and DNA sequencing. T-C transitions at positions 29 bp and 44 bp in relation to thetotal sequence of exon 8 were identified. Characterization of BRCA genes is relevant in a prevention setting aswell as for the clinical management of hereditary breast cancer patients. The presently identified novel mutationin exon8 of the BRCA2 gene might have clinical significance.