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