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FLASH GENE

Symbol

MSH2

contributors: np/shn/mct - updated : 15-09-2016

HGNC name	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
HGNC id	7325

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HNPCC1 , MTS , CMMRD

related resource

InternationalGrouponHereditaryNon-PolyposisColorectalCancer

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colon and uterus tumor tumoral germinal mutation       germline allele-specific and mosaic hypermethylation, without evidence of DNA mismatch repair gene mutation in early-onset colorectal or endometrial cancers tumoral germinal mutation       in epithelial ovarian cancer

Susceptibility

to prostate cancer

Variant & Polymorphism other	rare genetic variants that confer a high risk of prostate cancer when mutated

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	MSH2-/- mice are viable but develop lymphoid tumours
	mouse Msh2-deficient cells have lost mismatch binding and have acquired microsatellite instability, a mutator phenotype, and tolerance to methylating agents. A significant fraction of Msh2-deficient mice develop lymphomas at an early age
	MSH2-/- mice develop lymphoblastic lymphomas in association with aberrant expression of rhombotin-2 and Tal-1
	ES cells from Msh2(+/-) and Msh2(-/-) mice accumulate oxidized bases as a consequence of low-level radiation exposure
	absence of Msh2 in Hdh(Q111) mice is sufficient to abrogate progressive Huntington's disease CAG repeat expansion in striatum, eliminate striatal mutant huntingtin with somatically expanded glutamine tracts and to cause an approximately 5 month delay in nuclear mutant protein accumulation
	MSH2 depletion caused cellular phenotypes associated with defective Fanconi Anemia pathway, including mitomycin C hypersensitivity and chromosomal instability
	Msh2-null mice were also impaired in locomotive activity and had an abnormal response to heat