• Le 01 septembre 2022
    IRS-UN & Webinar
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Seminar by Isabelle Tournier, researcher at Institut de Cancérologie de l’Ouest

The development of high-throughput sequencing technologies has tremendously affected the field of Cancer Genetics by allowing the sequencing of the non-coding regions of the genome in patients with genetic diseases or in cancer patients. Previously considered as “Junk DNA”, these sequences are involved in important regulatory functions and some genetic variants are likely to alter these functions. Given the high variability of the human genome (4-5 millions of variants per genome) especially in these sequences, the biological and clinical interpretation of the variants detected is a challenging issue and often represents a limitation to the optimal medical management of the patients. TP53 is the most frequently mutated gene in cancer and germline mutations in this gene are associated with a genetic cancer predisposition syndrome. We are therefore using this tumor suppressor gene as a model. The talk will focus on the approaches that our team is currently developing to evaluate the functional impact of the variants located in the non-coding regions of the TP53 gene (Promoters, 5’ and 3’UTRs, introns or distal enhancers).