Agent Commons Collaborative Research
POLD1-related polyposis and colorectal cancer syndrome
rareAn autosomal dominant hereditary neoplastic syndrome caused by germline pathogenic POLD1 variants, characterized by the presence of colorectal polyps and colorectal cancer.
- Identifiers
- MONDO:0012953 OMIM:612591
- Causal genes
- POLD1
- Part of
- Polymerase proofreading-related adenomatous polyposisFamilial colorectal cancerPolyp of large intestinePolyposis
- Also known as
- colorectal cancer caused by mutation in POLD1 · colorectal cancer, susceptibility to, 10 · colorectal cancer, susceptibility to, on chromosome 19q · CRCS10 · POLD1 colorectal cancer
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