| Summary: | <p>Abstract</p> <p>Background</p> <p>Hereditary cancers account for 5–10% of cancers. In this study <it>BRCA1</it>, <it>BRCA2 </it>and <it>CHEK2</it>*(1100delC) were analyzed for mutations in 91 HBOC/HBC/HOC families and early onset breast and early onset ovarian cancer cases.</p> <p>Methods</p> <p>PCR-DHPLC was used for mutation screening followed by DNA sequencing for identification and confirmation of mutations. Kaplan-Meier survival probabilities were computed for five-year survival data on Breast and Ovarian cancer cases separately, and differences were tested using the Log-rank test.</p> <p>Results</p> <p>Fifteen (16%) pathogenic mutations (12 in <it>BRCA1 </it>and 3 in <it>BRCA2</it>), of which six were novel <it>BRCA1 </it>mutations were identified. None of the cases showed <it>CHEK2</it>*1100delC mutation. Many reported polymorphisms in the exonic and intronic regions of <it>BRCA1 </it>and <it>BRCA2 </it>were also seen. The mutation status and the polymorphisms were analyzed for association with the clinico-pathological features like age, stage, grade, histology, disease status, survival (overall and disease free) and with prognostic molecular markers (ER, PR, c-erbB2 and p53).</p> <p>Conclusion</p> <p>The stage of the disease at diagnosis was the only statistically significant (p < 0.0035) prognostic parameter. The mutation frequency and the polymorphisms were similar to reports on other ethnic populations. The lack of association between the clinico-pathological variables, mutation status and the disease status is likely to be due to the small numbers.</p>
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