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