Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies

Author:

Brandaleone Luca12ORCID,Dal Buono Arianna1ORCID,Gabbiadini Roberto1,Marcozzi Giacomo12,Polverini Davide12,Carvello Michele23,Spinelli Antonino23ORCID,Hassan Cesare24,Repici Alessandro24,Bezzio Cristina12ORCID,Armuzzi Alessandro12ORCID

Affiliation:

1. IBD Center, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy

2. Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072 Milan, Italy

3. Colon and Rectal Surgery Division, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy

4. Endoscopy Unit, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy

Abstract

Background and aims: Hereditary colorectal cancer syndromes (HCCS), including familial adenomatous polyposis (FAP) and Lynch syndrome (LS), are the two most important high-risk conditions for colorectal cancer (CRC). Inflammatory bowel disease (IBD) increases the risk by two to six times compared with that in the general population. The intersection of these two conditions has rarely been documented in literature. We aimed to summarize the prevalence, pathogenesis, and current evidence-based management of IBD and HCCS and the underlying molecular mechanisms of accelerated carcinogenesis due to combined inflammation and genetic predisposition. Methods: PubMed and Scopus were searched until June 2024 to identify relevant studies investigating the epidemiology, pathogenesis, and management of IBD and coexisting hereditary CRC syndromes. Results: Co-occurrence of IBD and hereditary CRC syndromes is exceptionally uncommon. Individuals with LS and IBD tend to develop CRC at a younger age than those without IBD, with patients with ulcerative colitis facing particularly elevated risks. The interaction between mismatch deficiency and chronic inflammation requires further investigation.

Funder

Italian Ministry of Health to IRCCS Humanitas Research Hospital

Publisher

MDPI AG

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