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BRCA1/2 testing: complex themes in result interpretation.

B N Peshkin1, T A DeMarco, B M Brogan

  • 1Department of Oncology/Division of Cancer Control, Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA. peshkinb@gunet.georgetown.edu

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|May 2, 2001
PubMed
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Genetic testing for BRCA1/2 mutations is common for hereditary breast and ovarian cancer risk. However, results can be complex due to undetected mutations, variants of uncertain significance, or non-BRCA related hereditary factors.

Area of Science:

  • Medical Genetics
  • Oncology
  • Cancer Susceptibility

Background:

  • Widespread genetic testing for BRCA1 and BRCA2 mutations aids in assessing breast and ovarian cancer susceptibility.
  • Interpreting genetic test results for hereditary cancer risk is often complex and not always straightforward.
  • Identifying pathogenic BRCA1/2 mutations in affected individuals within high-risk families is not always successful.

Purpose of the Study:

  • To illustrate the complexities in interpreting genetic test results for hereditary breast and ovarian cancer.
  • To explore potential explanations for negative BRCA1/2 mutation findings in high-risk families.
  • To highlight the importance of genetic counseling and multidisciplinary care in managing cancer risk.

Main Methods:

  • Presentation of five case vignettes adapted from actual clinical scenarios.

Related Experiment Videos

  • Discussion of potential reasons for negative or uncertain genetic test results.
  • Consideration of extending genetic testing to relatives for result clarification.

    • Main Results:

    • Deleterious BRCA1 or BRCA2 mutations are not identified in all affected individuals from high-risk families.
    • Possible explanations include undetected BRCA1/2 mutations, mutations in other genes, or sporadic cancer occurrences.
    • Variants of uncertain significance (VUS), particularly missense mutations, complicate risk assessment.

    Conclusions:

    • Interpreting genetic test results for hereditary breast and ovarian cancer requires careful consideration of multiple factors.
    • Genetic counseling and appropriate surveillance are crucial for individuals with potential hereditary cancer risk.
    • A multidisciplinary approach involving genetics and oncology professionals enhances patient decision-making and support.