Gene Information
mutS homolog 6 [Source:HGNC Symbol;Acc:HGNC:7329]
MSH6 variants are associated with 2 diseases including Lynch syndrome and mismatch repair cancer syndrome, with 17 documented clinical phenotypes.
The MSH6 gene is associated with 2 medical conditions, including:
Research has identified 17 phenotypic features associated with MSH6 variants:
Hereditary nonpolyposis colorectal carcinoma
HP:0006716
Neoplasm of the pancreas
HP:0002894
Lisch nodules
HP:0009737
Lymphoma
HP:0002665
Multiple cafe-au-lait spots
HP:0007565
Autosomal dominant inheritance
HP:0000006
Neoplasm of the rectum
HP:0100743
Endometrial carcinoma
HP:0012114
Autosomal recessive inheritance
HP:0000007
T-cell lymphoma
HP:0012190
Glioblastoma multiforme
HP:0012174
Ovarian neoplasm
HP:0100615
Colon cancer
HP:0003003
Astrocytoma
HP:0009592
Axillary freckling
HP:0000997
ClinVar contains 10 variants associated with MSH6. Below are some notable variants:
NM_001190274.2(FBXO11):c.2665G>A (p.Asp889Asn)
PathogenicVCV004528290
Review: criteria provided, single submitter
NM_001190274.2(FBXO11):c.2339-21T>G
VCV004514563
NM_000179.3(MSH6):c.2684_2685del (p.Thr895fs)
Likely pathogenicVCV004294491
Review: criteria provided, single submitter
NM_000179.3(MSH6):c.2386dup (p.Glu796fs)
Likely pathogenicVCV004294463
Review: criteria provided, single submitter
NM_000179.3(MSH6):c.3622_3623insGAGAG (p.Ser1208Ter)
PathogenicVCV004294271
Review: criteria provided, single submitter
There are 1,412 publications about MSH6 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
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
Cancer risks for MSH6 pathogenic variant carriers.
Werf-'t Lam AV, Dowty JG, Italia M
PMID: 41242000
•
2025 Nov 6
•
Eur J Cancer
Get instant, comprehensive insights on MSH6 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025