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Colorectal cancer and the rare variant hypothesis

Table of Contents: “…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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Colorectal cancer and the rare variant hypothesis

Table of Contents: “…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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Role of polycomb proteins in gene transcription, stem cell and human diseases

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Role of polycomb proteins in gene transcription, stem cell and human diseases

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Role of polycomb proteins in gene transcription, stem cell and human diseases

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