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#Grand Rounds

Single Gene vs Multigene Panel Testing for Cancer Predisposition: Are Guidelines Too Restrictive?

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BACKGROUND AND PURPOSE:

  • Multigene panel testing (MGPT) for hereditary cancer predisposition is becoming increasingly available
    • MGPT includes additional genes that may be important for a particular cancer (e.g., other genes beyond BRCA1/2 for breast cancer)
    •  MGPT can be helpful for heritable syndromes that include multiple cancers
  • Evidence-based guidelines often suggest starting with smaller genetic panels depending on the clinical scenario
  • DaLuca et al. (Genetics in Medicine, 2019) sought to compare MGPT to the more traditional targeted gene panels recommended by NCCN for BRCA-related breast and/or ovarian cancer syndrome and Lynch syndrome

METHODS:

  • Retrospective review
  • Participants
    • Patients undergoing hereditary cancer predisposition testing with MGPT
    • Cancer Indications: Breast | Ovarian | Colorectal | Uterine/endometrial | Pancreatic | Pan-cancer
  • 32 cancer predisposition genes

RESULTS:

  • Pathogenic variant frequencies
    • Highest among patients with ovarian cancer (13.8%) | Lowest among patients with melanoma (8.1%)
  • Using NCCN guidelines, the majority of pathogenic variants would be missed
    • BRCA1/2 testing guidelines: Only 33.1% of pathogenic variants would be detected using targeted panels
    • Lynch syndrome guidelines: Only 46.2% of pathogenic variants would be detected using the targeted Lynch syndrome panels   
  • Using NCCN guidelines, some women with pathogenic variants would not have met criteria for testing
    • Breast cancer: 5.8% of patients with pathogenic variants in BRCA1/2 would be missed
    • Lynch syndrome: 26.9% of patients with pathogenic variants in Lynch syndrome genes would be missed

CONCLUSION:

  • More at-risk patients would be identified
    • Using multigene panel testing rather than limited panels specific to a particular cancer syndrome
    • If NCCN guidelines were less restrictive (e.g., lowering age at diagnosis constraints)

Learn More – Primary Sources:

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

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Related ObG Topics:

USPSTF Guidelines for Primary Care Clinicians: BRCA-Related Cancer Risk Assessment
BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?
Ovarian or Endometrial Cancer? Consider Lynch Syndrome
Should We Be Testing Beyond BRCA1/2 in Women of Ashkenazi Jewish Heritage with Breast Cancer?
Is there a Genetic Link between Lynch Syndrome and Breast Cancer?
What Percentage of Individuals under 50 Years of Age with Colon Cancer Have Mutations Associated with Heritable Cancer?

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