Location [1]
Protein [2]
DNA mismatch repair protein Mlh3
Synonyms [1]

MutL homolog 3 (MLH3) is a gene that encodes a protein that functions in maintaining genomic integrity during DNA replication and following meiotic recombination. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

MLH3 is altered in 3.27% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, breast carcinoma, melanoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

MLH3 GENIE Cases - Top Diseases

The most common alterations in MLH3 are MLH3 Mutation (0.45%), MLH3 Mutation (germline) (0.45%), MLH3 N674Ifs*6 (0.01%), MLH3 E386K (0.01%), and MLH3 E586Nfs*24 (0.01%) [3].

MLH3 GENIE Cases - Top Alterations

Significance of MLH3 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Melanoma +

Small Cell Lung Carcinoma +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Renal Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bladder Carcinoma +

Urothelial Carcinoma +

Fallopian Tube Carcinoma +

Glioma +

Hepatocellular Carcinoma +

Endometrial Undifferentiated Carcinoma +

Skin Carcinoma +

Squamous Cell Lung Carcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Adenocarcinoma +

Gastric Adenocarcinoma +

Non-Hodgkin Lymphoma +

Prostate Carcinoma +

Lung Adenocarcinoma +

Pancreatic Adenocarcinoma +

Esophageal Carcinoma +

Cancer +

Cervical Carcinoma +

Malignant Brain Neoplasm +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Ureter Urothelial Carcinoma +

Uterine Corpus Carcinosarcoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.