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← Disease database

POLE-related polyposis and colorectal cancer syndrome

An autosomal dominant hereditary syndrome caused by germline pathogenic POLE 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:0100287

Overview

An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.

Content last reviewed: 2026-06