Details of Disease | DrugMAP

General Information of Disease (ID: DISNQHXW)

Disease Name	NTHL1-deficiency tumor predisposition syndrome
Definition	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating COSMIC Signature 30?mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
Disease Hierarchy	DISGXLG5: Hereditary neoplastic syndrome DISNQHXW: NTHL1-deficiency tumor predisposition 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
NTHL1	OTPQXPT1	Definitive	Autosomal recessive	[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.