Outcomes of 'in-house' genetic testing within a specialist hereditary colorectal cancer registry.

Authors

Manasawee Srisuttayasathien, Victoria Cuthill, Menna Hawkins, Ashish Sinha, Susan Clark, Andrew Latchford, Kevin J Monahan

Published in

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland. Volume 28. Issue 10. Pages e70640.

Abstract

Approximately 5%-10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. 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.
This study retrospectively reviewed clinical, pathological and genetic factors using prospectively collected data from the St Mark's Hospital Centre for Familial Intestinal Cancer registry. Between December 2021 and June 2023, consecutive patients at risk of hereditary CRC were selected for genetic testing according to UK National Genomic Testing criteria. The diagnostic yield of genetic testing was calculated by indication. Statistical analysis for clinicopathological data was performed using the Mann-Whitney U test, chi-square test and logistic regression.
A total of 283 consecutive patients underwent genetic testing, 100 (35.3%) mainstreamed with CRC, 95 (33.6%) with multiple polyps, 74 (26.6%) had cascade testing (within families where the probands were known to the registry) and other testing including 'unaffected' patients with a relevant family history. Variants were detected in 85 of 283 (30%) patients with known CRC predisposition genes. Diagnostic yields were high for deficient mismatch repair (dMMR) cancer with Lynch syndrome (LS) at 45%, and also for multiple adenoma cohorts at 16%; and in CRC patients under 40 years (irrespective of tumour MMR status) at 16%.
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.

PMID:
42803145
Bibliographic data and abstract were imported from PubMed on 28 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.