ABSTRACT:
Hormone related cancer breast cancer has been caused by defects in cell cycle control genes BRCA1 and BRCA2 which also plays a vital role in tumour suppression and DNA repair. To determine the frequency of occurrence of 185delAG mutation of BRCA1 in exon 2 regions which has been previously reported in Ashkenazi Jewish families and also in Indian population. 200 breast cancer affected and 200 healthy age matched control samples were screened for 185delAG mutation by taqman allelic discrimination assay. Among the 200 breast cancer affected cases 29 had family history of cancer and 5 out of the 29 family history group had classic history of multiple members being affected across generations. The study demonstrates though in low frequency the definite strong involvement of 185delAG mutation in familial cases and absence of this mutation in non familial cases. The association of the mutation with breast cancer patients imposes genetic testing in familial cases, making way for targeted therapy and precision medicine. The identification of this mutation as a causal factor for breast cancer will be of value to researchers, patient care, clinicians, for family members and individuals with early onset of cancer.