Search Results - Genomics PLC~
Suggested Topics within your search.
Suggested Topics within your search.
- Cancer 2
- Colon (Anatomy) 2
- Colorectal Neoplasms 2
- DNA Mismatch Repair 2
- Genes, APC 2
- Genetic Predisposition to Disease 2
- Genetic Variation 2
- Genetic aspects 2
- MLH1 protein, human 2
- Medical genetics 2
- Multifactorial Inheritance 2
- MutL Protein Homolog 1 2
- Rectum 2
- Tumor Suppressor Protein p53 2
- Wnt Signaling Pathway 2
- genetics 2
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Colorectal cancer and the rare variant hypothesis
Published 2020Table 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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Series
Electronic Video -
2
Colorectal cancer and the rare variant hypothesis
Published 2020Table 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.…”
Get full text
Series
Electronic Video