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Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers

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Current genetic testing guidelines miss many individuals with hereditary cancer risk. Multi-gene panel testing identifies more pathogenic variants, including those outside common founder mutations, highlighting the need for broader screening.

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Area of Science:

  • Genetics
  • Oncology
  • Genomic Medicine

Background:

  • Next-generation sequencing enables multi-gene panel testing for hereditary cancer risk.
  • Current genetic testing recommendations, based on personal/family history and ethnicity, miss many carriers.

Purpose of the Study:

  • To evaluate the yield of 30-gene next-generation sequencing panel testing for hereditary cancer risk.
  • To assess the proportion of individuals identified with pathogenic variants who would not meet current National Comprehensive Cancer Network (NCCN) guidelines.

Main Methods:

  • Retrospective analysis of 23,179 individuals undergoing 30-gene panel testing for hereditary cancer risk.
  • Assessment of variant pathogenicity and comparison with NCCN testing criteria.

Main Results:

  • 11.6% overall pathogenic variant frequency (9.1% excluding common low-penetrance alleles).
  • 38.7% of individuals tested would not meet NCCN criteria.
  • Significant pathogenic variants found in Ashkenazi Jewish individuals outside common BRCA1/BRCA2 founder alleles.
  • 21.7% of individuals with pathogenic variants in genes with NCCN recommendations did not meet criteria.

Conclusions:

  • Current genetic testing guidelines underestimate hereditary cancer risk.
  • Multi-gene panel testing identifies a substantial number of individuals missed by guideline-based testing.
  • Broader application of genetic panel testing may improve hereditary cancer risk identification and management.