Colorectal Cancer Genetics
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Questions and Answers

What percentage of all colorectal cancer cases can be attributed to well-defined hereditary syndromes?

  • 10-15%
  • 15-20%
  • 1-5%
  • 5-10% (correct)
  • Which genes are responsible for Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?

  • MLH1, MSH2, MSH6, and PMS2 (correct)
  • APC, TP53
  • BRCA1, BRCA2
  • KRAS, NRAS
  • What is the lifetime risk of colon cancer in individuals with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?

  • 60-70%
  • 20-30%
  • 30-40%
  • 46-61% (correct)
  • What is the characteristic of the onset of colon cancer in individuals with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?

    <p>Earlier than in the general population</p> Signup and view all the answers

    What is the increased risk of cancer in women with Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome?

    <p>34-54% risk of endometrial cancer</p> Signup and view all the answers

    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.

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