Gene Information
mutL homolog 1 [Source:HGNC Symbol;Acc:HGNC:7127]
MLH1 variants are associated with 2 diseases including mismatch repair cancer syndrome and Lynch syndrome, with 39 documented clinical phenotypes.
The MLH1 gene is associated with 2 medical conditions, including:
Research has identified 39 phenotypic features associated with MLH1 variants:
Astrocytoma
HP:0009592
Medulloblastoma
HP:0002885
Autosomal dominant inheritance
HP:0000006
Neuroblastoma
HP:0003006
Pleomorphic xanthoastrocytoma
HP:0033682
Sebaceous gland carcinoma
HP:0030410
Axillary freckling
HP:0000997
Plexiform neurofibroma
HP:0009732
Benign genitourinary tract neoplasm
HP:0006778
Middle age onset
HP:0003596
Breast carcinoma
HP:0003002
Colonic diverticula
HP:0002253
Adenomatous colonic polyposis
HP:0005227
Oligodendroglioma
HP:0033681
Laryngeal carcinoma
HP:0012118
ClinVar contains 10 variants associated with MLH1. Below are some notable variants:
NM_000249.4(MLH1):c.1654A>C (p.Thr552Pro)
Likely pathogenicVCV004526455
Review: criteria provided, single submitter
NM_000249.4(MLH1):c.2157_2161del (p.Ile719_Val720insTer)
PathogenicVCV004294237
Review: criteria provided, single submitter
NM_000249.4(MLH1):c.927del (p.Thr310fs)
PathogenicVCV004294113
Review: criteria provided, single submitter
NM_000249.4(MLH1):c.1668-28_1668-3del
VCV004288189
NM_000249.4(MLH1):c.159G>C (p.Glu53Asp)
Uncertain significanceVCV004281916
Review: criteria provided, single submitter
There are 1,957 publications about MLH1 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 MLH1 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025