Approximately 5%–10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes genetic conditions caused by a mutation in a single gene that follow predictable patterns of inheritance
This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways.
Conclusion
Genetic testing performed by our specialist unit provides patients with a high-yield, and effective genetic diagnosis, directly indicating comprehensive lifelong care, outside the context of a traditional genetics service.
