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Questions and Answers
What percentage of all colorectal cancer cases can be attributed to well-defined hereditary syndromes?
Which genes are responsible for Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?
What is the lifetime risk of colon cancer in individuals with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?
What is the characteristic of the onset of colon cancer in individuals with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?
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What is the increased risk of cancer in women with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?
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Study Notes
Genetic Alterations in Colorectal Cancer
- 5-10% of all colorectal cancer cases are attributed to well-defined hereditary syndromes
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) / Lynch Syndrome
- Not characterized by excessive polyps
- Accounts for 2-4% of all colorectal cancers
- Autosomal dominant trait caused by germline mutations in DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, and PMS2
- Lifetime risk of colon cancer: 46-61% (compared to 4.2% in the general population)
- Women: 34-54% risk of endometrial cancer (compared to 3.1% in the general population)
- Increased risk for various other malignancies, including ovarian and gastric cancers
- Onset of colon cancer occurs earlier than in the general population
- Initiation of screening depends on the MMR gene variant(s) affected
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Description
This quiz covers the genetics of colorectal cancer, including hereditary syndromes, Lynch Syndrome, and DNA mismatch repair genes. Learn about the lifetime risk of colon cancer and more.
