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 2.97% of all cancers with colon adenocarcinoma, lung adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

MLH3 GENIE Cases - Top Diseases

The most common alterations in MLH3 are MLH3 Mutation (2.53%), MLH3 E386K (0.08%), MLH3 N540S (0.04%), MLH3 Q1123* (0.04%), and MLH3 R1115Q (0.05%) [3].

MLH3 GENIE Cases - Top Alterations

Significance of MLH3 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Uterine Neoplasm +

Small Cell Lung Carcinoma +

Lung Carcinoma +

Malignant Small Intestinal Neoplasm +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Bladder Carcinoma +

Malignant Intestinal Neoplasm +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Gastrointestinal Stromal Tumor +

Pancreatic Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Esophageal Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bronchogenic Carcinoma +

Esophageal Squamous Cell Carcinoma +

Mantle Cell Lymphoma +

Penile Carcinoma +

Prostate Small Cell Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.