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Area of Science:

  • Genetics
  • Oncology
  • Developmental Biology

Background:

  • Mosaic mutations in cancer susceptibility genes (CSGs) can arise during embryogenesis.
  • The role of these early-embryonic mosaic mutations in apparently sporadic cancers is largely unknown.
  • Clinical genetic testing often misses these mosaic variants.

Purpose of the Study:

  • To investigate the contribution of early-embryonic mosaic CSG variants to sporadic cancers.
  • To establish a causal link between these variants and cancer development.
  • To assess the detectability and implications of these variants.

Main Methods:

  • Analysis of paired tumor/blood sequencing data from 35,310 cancer patients.
  • Detection of pathogenic mosaic variants in CSGs.
  • Microdissection of normal tissues from distinct embryonic lineages for variant analysis.
  • Assessment of tumor-specific biallelic inactivation of affected CSGs.

Main Results:

  • Identified 36 pathogenic mosaic variants in CSGs, often missed by clinical testing.
  • Detected these variants in normal tissues from early embryonic lineages (prior to gastrulation).
  • Observed tumor-specific biallelic inactivation of affected CSGs in 91.7% of cases, confirming a causal link.

Conclusions:

  • Mosaic variants in CSGs arising in early embryogenesis are a significant cause of apparently sporadic cancers.
  • Systematic detection of these variants is feasible through tumor/normal sequencing.
  • Identification of these variants has implications for patient therapy and prophylactic measures for families.