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Cancer hereditary (SUMMARY (most dominant inheritance pattern, mostly…
Cancer hereditary
SUMMARY
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TSGs, recessice at the cellular level, Knudson two hit theorem
most cancers are sporadic, but fraction of cancers are caused by an inherited susceptibility
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mutations in high penetrance and low penetrance genes have different effects on individual and population levels
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Characteristics
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IMPORTRANT DEFINITIONS
PENETRANCE
likelihood of cancer development for an individual with germ line mutgation
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the proportion of individuals with the mutation who exhibit clinical symptoms.
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FAP, Familial adonomatous polyposis
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also involved in cell migration and adhesion, transcriptional activation
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Hereditary breast cancer
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BRCA1
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over 200 mutations, polymorphisms, variants
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HNPCC, hereditary non-polyposis colon cancer