Overview
An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
POLD1-related polyposis and colorectal cancer syndrome
An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
- Therapeutic area
- Oncology · Rare Disease
- Rarity
- Rare
- Prevalence
- ~100k patients (est.)
- MONDO
- MONDO:0100351
Content last reviewed: 2026-06