Hereditary tumors
8 important questions on Hereditary tumors
What is genetic susceptibility?
Knudson Two-Hit Hypothesis
What are the criteria for a cancer to be hereditary?
- Development of tumor at relatively young age
- Several primary tumors
- Several siblings with the same phenotype
- Specific combination of tumors in patients/family
- Presence of precursor lesions
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How can PARP inhibitors be good drugs to treat cancer?
What are the two most well-known hereditary colon cancers syndromes?
- Lynch syndrome: autosomal dominant inactivating mutations in MMR genes, no increased incidence of polyps.
- Familial adenomatous polyposis (FAP): autosomal dominant inactivating mutations in the APC gene, causing 100 to 1000 polyps in the colon
What is MUTYH-associated polyposis (MAP)?
What are the Amsterdam criteria?
- One is a first degree relative of the other two
- two successive generations are affected.
- One patient is <50 years
How can the lynch syndrome (HNPCC) be recognized (onderzoek)?
- MSI analysis (microsatellite instability analysis): checks repeat length using PCR
- Immunohistochemistry: antibodies against mismatch repair genes (MSH6, MSH2, MLH1, PMS2)
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