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Research Projects

Centre for Advanced Research for Cancer Genetics and Genomics


It is now the Apex National Referral Centre for comprehensive clinical and laboratory genetic services and genetics research for all major cancer predisposition syndromes and a model of Comprehensive Cancer Genetics Unit (dedicated daily Genetics Clinic plus Genetics Lab). Best international practices in counselling, genetic testing, screening & medical management developed and tailored for Psycho-Social-Cultural dynamics unique to Indian families. It is the only unit in the country which conducts and issues clinically relevant reports with advice for clinical management for carriers of germline mutation in a wide range of cancer associated genes (BRCA1, BRCA2, RET, TP53, RB, CHK2, XP, MMR etc), presently free of cost due to ICMR support. Germline mutation analysis in 179 individuals from 103 families with various inherited cancer predisposition syndromes identified deleterious germline mutation in 55 cases. With 970 pedigrees, DNA Bank of 860 cases & EBV cell lines from 300 cases, it is the largest collection of clinical & research resources in diverse hereditary cancers outside USA & Europe. Through Haplotype analysis we show that the Jewish Founder Mutation in BRCA1 (185delAG) in 32 Indian families has a distinct haplotype i.e. new Indian Founder Effect.

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