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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Rosario Ferrer-AvarguesMaría Isabel CastillejoEstela DámasoVirginia Díez-ObreroNoemí GarrigosTatiana MolinaAlan Codoñer-AlejosÁngel SeguraAna Beatriz Sánchez-HerasAdela CastillejoJosé Luís Soto
Published in: Cancer communications (London, England) (2021)
Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of LS. In most cases, no clinicial manifestations were associated with the secondary pathogenic variants. Further studies are needed to confirm these findings and elucidate their clinical impact. Reanalysis of LS families should be considered only in families with mixed clinical phenotypes.
Keyphrases
  • papillary thyroid
  • copy number
  • gene expression
  • childhood cancer
  • transcription factor
  • oxidative stress
  • case control