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.
This international collaborative project aims to establish a comprehensive catalogue of Genomic & other abnormalities in 500 tumours each of 50 different Cancer types of Clinical & Societal importance across the globe. India has taken up Comprehensive Genomic and associated analyses of the most prevalent Indian Cancer – Gingivo-Buccal Squamus Carcinoma. All the 500 cases will be accrued in ACTREC, deep resequencing at NIBMG and associated methylation, transcriptome, IHC and functional analyses will be done at ACTREC.
Established a major programme under International Cancer Genome Consortium – India projectwhere high quality annotated tumour specimens are being banked. Deep resequencing of oral cancer initiated at NIBMG & associated analysis at ACTREC. This approach will be extended to other paired benign – cancer specimens for step wise carcinogenesis
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.
