Gene Information
mutS homolog 2 [Source:HGNC Symbol;Acc:HGNC:7325]
MSH2 variants are associated with 2 diseases including mismatch repair cancer syndrome and Lynch syndrome, with 21 documented clinical phenotypes.
The MSH2 gene is associated with 2 medical conditions, including:
Research has identified 21 phenotypic features associated with MSH2 variants:
Glioblastoma multiforme
HP:0012174
Basal cell carcinoma
HP:0002671
Laryngeal carcinoma
HP:0012118
Sebaceous gland carcinoma
HP:0030410
Adenoma sebaceum
HP:0009720
Duodenal adenocarcinoma
HP:0006771
Benign gastrointestinal tract tumors
HP:0006719
Colonic diverticula
HP:0002253
Autosomal recessive inheritance
HP:0000007
Colon cancer
HP:0003003
Middle age onset
HP:0003596
Autosomal dominant inheritance
HP:0000006
Malignant genitourinary tract tumor
HP:0006758
Colon cancer
HP:0003003
Breast carcinoma
HP:0003002
ClinVar contains 10 variants associated with MSH2. Below are some notable variants:
NM_000251.3(MSH2):c.2116dup (p.Asp706fs)
PathogenicVCV004526522
Review: criteria provided, single submitter
NM_000251.3(MSH2):c.1061del (p.Asn354fs)
PathogenicVCV004294261
Review: criteria provided, single submitter
NC_000002.12:g.47401398_47403273delinsAlu
PathogenicVCV004279518
Review: criteria provided, single submitter
GRCh37/hg19 2p21-16.3(chr2:47574068-47868526)x1
PathogenicVCV004279425
Review: criteria provided, single submitter
NM_000251.3(MSH2):c.1049T>A (p.Leu350His)
Uncertain significanceVCV004279063
Review: criteria provided, single submitter
There are 1,665 publications about MSH2 indexed in PubMed. Below are some recent papers:
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.
Mizukami K, Usui Y, Iwasaki Y
PMID: 41258140
•
2025 Nov 13
•
Commun Med (Lond)
Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients.
Naeemi H, Muhammad N, Loya A
PMID: 41257893
•
2025 Nov 19
•
Hered Cancer Clin Pract
AXINEO: AXIllary response to NEOadjuvant chemotherapy for breast cancer: can we predict response based on a biomarker panel?
Fick F, Lenz F, Sailer VW
PMID: 41251718
•
2025 Nov 18
•
Arch Gynecol Obstet
The expression of Mutl Protein Homolog 1 (MLH1) and Muts Homolog 2 (MSH2) in colorectal carcinoma: An immunohistochemical study.
Garg E, Sharma M, Madan M
PMID: 41250568
•
2025 Nov 15
•
Indian J Pathol Microbiol
Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.
Yan G, Zhang P, Cao Y
PMID: 41247883
•
2025 Nov 14
•
Int J Surg
Get instant, comprehensive insights on MSH2 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025