Colorectal cancer and the rare variant hypothesis [electronic resource] / Walter Bodmer.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Human population genetics I : evolution and variation: Publisher: London : Henry Stewart Talks, 2020Description: 1 online resource (1 streaming video file (53 min.) : color, sound)Subject(s): Cancer -- Genetic aspects | Colon (Anatomy) -- Cancer -- Genetic aspects | Medical genetics | Rectum -- Cancer -- Genetic aspects | Colorectal Neoplasms -- genetics | DNA Mismatch Repair | Genes, APC | Genetic Predisposition to Disease | Genetic Variation | MLH1 protein, human | Multifactorial Inheritance | MutL Protein Homolog 1 | Tumor Suppressor Protein p53 | Wnt Signaling PathwayOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Updated version of a talk first published in 2007.
Contents: Cancer: a somatic evolutionary process -- Colorectal cancer: a good model to study -- Two clear cut familial forms: FAP and HNPCC -- Mutation selection balance for dominants and recessives: application to FAP -- APC gene found by positional cloning -- Loss of heterozygosity proved its role in sporadic cancers -- Selection for mutations in the APC "mutation cluster region" -- HNPCC mismatch repair genes found by candidate guess -- Mutated genes in colorectal cancer include p53 and wnt pathway, occur in adenoma to carcinoma sequence -- Arguments for and against need for genomic instability in cancers -- Epigenetic changes -- Mathematical model of normal and cancerous crypt -- Types of familial cancers: mostly rarer than FAP and HNPCC -- Approaches to studying multifactorial inherited susceptibility -- HLA and disease: the model -- Role of linkage disequilbrium -- Principles of SNP association analysis -- Rare missense variants in the APC gene confer susceptibility -- The "rare variant hypothesis" for multifactorial inherited susceptibility: exemplified by study of colorectal adenomas.
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Mode of access: World Wide Web.