Details of Disease | DrugMAP

General Information of Disease (ID: DISRISCQ)

Disease Name	Lynch syndrome 5
Synonyms	HNPCC5; hereditary nonpolyposis colon cancer caused by mutation in MSH6; MSH6 hereditary nonpolyposis colon cancer; colorectal cancer, hereditary nonpolyposis, type 5
Definition	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.
Disease Hierarchy	DISPA49R: Hereditary nonpolyposis colon cancer DIS3HIWD: Autosomal dominant disease DISRISCQ: Lynch syndrome 5
Disease Identifiers	MONDO ID MONDO_0013710 MESH ID C563456 UMLS CUI C1833477 OMIM ID 614350 MedGen ID 318886

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FBXO11	TT6G10V	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MSH6	OT46FP09	Definitive	Autosomal dominant	[2]
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References

1	Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.J Gastroenterol Hepatol. 2017 Feb;32(2):427-438. doi: 10.1111/jgh.13468.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.