Screening of BRCA 1 - 185delAG mutation in Ovarian Cancer patients in a Tertiary care centre from Telangana

Aim: Ovarian cancer (OC) occurs due to genetic alterations and mutations in BRCA gene. The aim of the study is to assess the frequency of genetic alterations that persist in Ashkenazi founder mutation BRCA1, 185delAG in patients with ovarian cancer from South Indian origin. Materials and Methods: A total of 100 ovarian cancer patients and an equal number of control subjects were included in the present study. Screening of 185delAG mutation BRCA1 gene was carried out by ARMS PCR followed by agarose gel electrophoresis. Statistical analysis was applied to test for the significance of the results obtained. Results: The genotype distribution of WW, WM, MM showed a significant difference between the two subjects, 95%, 4% and 1% in controls and 52%, 36% and 12% in cases respectively. An increased frequency of homozygotic mutant genotypes (MM) were found in patients compared to controls. Similarly, a significant difference in the distribution of M allele in cases and control subjects (W v/s M: χ2 P<0.0001, OR 18.06, 95% CI 6.31-51.65) was observed. Conclusion: The demographic details of the patients and controls revealed that females of age greater than 40 years are associated with high risk of ovarian cancer. The postmenopausal women have a very high susceptibility to OC (6.5 times riskier). Therefore, 185delAG mutation BRCA1 has a possible association in the etiology of ovarian cancer.