Hereditary cancer syndromes (BRCA, Lynch syndrome) and the oncogene or tumor suppressor gene mutation behind each.
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- Which two genes are most commonly mutated in hereditary breast and ovarian cancer syndrome?
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BRCA1 and BRCA2- What type of gene are BRCA1 and BRCA2 (oncogene or tumor suppressor)?
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Tumor suppressor genes- What DNA repair process do BRCA1 and BRCA2 help carry out?
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Homologous recombination repair of double-strand breaks- What inheritance pattern do BRCA1 and BRCA2 mutations follow?
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Autosomal dominant- What class of drugs exploits synthetic lethality in BRCA-mutated tumor cells?
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PARP inhibitors- Lynch syndrome is caused by mutations in what type of gene family?
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DNA mismatch repair genes- Name the four main genes associated with Lynch syndrome.
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MLH1, MSH2, MSH6, and PMS2- What molecular hallmark do Lynch syndrome tumors show due to mismatch repair deficiency?
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Microsatellite instability- What is the variant of Lynch syndrome that includes sebaceous skin tumors called?
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Muir-Torre syndrome- Li-Fraumeni syndrome is caused by a germline mutation in which gene?
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TP53- What nickname is given to the TP53 protein because of its role in preventing cancer?
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The guardian of the genome- What types of cancer are characteristic of Li-Fraumeni syndrome?
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Sarcomas, breast cancer, brain tumors, and adrenal cortical carcinoma- Familial adenomatous polyposis (FAP) is caused by mutation in which gene?
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APC gene- What cell signaling pathway does the APC protein normally regulate?
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The Wnt/beta-catenin pathway- What is the clinical hallmark of FAP before colorectal cancer develops?
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Hundreds to thousands of colon polyps
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