TY  - ADVS
AU  - Bodmer,W.F.
TI  - Colorectal cancer and the rare variant hypothesis
T2  - Human population genetics I : evolution and variation,
PY  - 2020///
CY  - London
PB  - Henry Stewart Talks
KW  - Cancer
KW  - Genetic aspects
KW  - Colon (Anatomy)
KW  - Medical genetics
KW  - Rectum
KW  - Colorectal Neoplasms
KW  - genetics
KW  - DNA Mismatch Repair
KW  - Genes, APC
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - MLH1 protein, human
KW  - Multifactorial Inheritance
KW  - MutL Protein Homolog 1
KW  - Tumor Suppressor Protein p53
KW  - Wnt Signaling Pathway
N1  - 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/320/
UR  - https://hstalks.com/bs/p/27/
ER  -