Study overview for new sites

To request a study protocol please contact the study team.

Study overview and rationale

  • GWAS approaches address polygenic inheritance of CRC
  • Mendelian dominant CRC syndromes are largely already identified, a new approach is need targeting de novo mutations and recessive alleles
  • This study sets out to systematically search for recessive and de novo mutations responsible for CRC using whole genome sequencing
  • Putative pathogenic mutations will be validated in large parallel datasets and model systems

 

 

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