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Breast Cancer – BRCAGEL Case Control Study : evaluating 25 SNPs and various reproductive, lifestyle, dietary, chrono-biology & exposure variables in sporadic and familial cancers. Epidemiology Collaborators: Dr PC Gupta, Healis Institute, Mumbai & Dr James Hebert, Univ of South Carolina, USA.

Upper Aero-Digestive Tract Multiple Primary Cohort: Gene Environment Interaction examining tobacco and genes involved in metabolizing enzyme, DNA repair and apoptosis. Collaborator: Rita Mulherkar, ACTREC

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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