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Research Projects

Genetic Predisposition from High Penetrance Genes modulating factors in Hereditary Cancer Syndromes


The mutation spectra in ethnic Indian families with diverse hereditary cancer syndromes has been identified and now being expanded with population studies of the BRCA1 Jewish founder mutation which we have identified as a distinct founder mutation in ethnic Indians. Studies are underway to study the penetrance, genotype-phenotype correlation & functional aspects of various mutants or sequence variants of unknown significance in major hereditary syndromes.



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