Details of Disease | DrugMAP

General Information of Disease (ID: DISBPX9N)

Disease Name	POLE-related polyposis and colorectal cancer syndrome
Definition	An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
Disease Hierarchy	DISZYIBJ: Familial colorectal cancer DISGXLG5: Hereditary neoplastic syndrome DISRE1MK: Polyp of large intestine DISZSPOK: Polyposis DISBPX9N: POLE-related polyposis and colorectal cancer syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLE	OTFM3MMU	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.