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An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
No clinical trials have been registered for POLD1-related polyposis and colorectal cancer syndrome.
5 publications have been identified in PubMed for POLD1-related polyposis and colorectal cancer syndrome. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Cammarota F (2026). [PMID: 41751327](https://pubmed.ncbi.nlm.nih.gov/41751327/). *Biomedicines*. [Basic Science / Preclinical]
Folletet A (2025). [PMID: 41487566](https://pubmed.ncbi.nlm.nih.gov/41487566/). *Front Oncol*. [Case Report / Case Series]
Joo JE (2025). [PMID: 40237887](https://pubmed.ncbi.nlm.nih.gov/40237887/). *Fam Cancer*. [Review / Meta-Analysis]
Ito H (2025). [PMID: 40741356](https://pubmed.ncbi.nlm.nih.gov/40741356/). *JGH Open*. [Case Report / Case Series]
Goshayeshi L (2025). [PMID: 40223084](https://pubmed.ncbi.nlm.nih.gov/40223084/). *Cancer Cell Int*. [Epidemiology / Natural History]
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC
Common questions about POLD1-related polyposis and colorectal cancer syndrome