Associated Genetic Biomarkers
Associated Diseases


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 2.44% of all cancers with colon adenocarcinoma, lung adenocarcinoma, melanoma, breast invasive ductal carcinoma, and glioblastoma 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

Biomarker-Directed Therapies

Significance of MLH3 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Neuroendocrine Carcinoma +

Endometrial Adenocarcinoma +

Malignant Ovarian Neoplasm +

Malignant Esophageal Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Merkel Cell Carcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Skin Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Colorectal Adenocarcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Non-Hodgkin Lymphoma +

Glioma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Thyroid Gland Carcinoma +

Colon Adenocarcinoma +

Malignant Uterine Neoplasm +

Bladder Urothelial Carcinoma +

Squamous Cell Carcinoma +

Cancer +

Malignant Ovarian Epithelial Tumor +

Sarcoma +

Anal Squamous Cell Carcinoma +

Basal Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Classical Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Esophagogastric Carcinoma +

Gallbladder Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Nasopharyngeal Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Salivary Gland Carcinoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Colon Carcinoma +

Malignant Intestinal Neoplasm +

Endometrial Endometrioid Adenocarcinoma +

Lung Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

Bile Duct Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

Clear Cell Adenocarcinoma +

Clear Cell Hepatocellular Carcinoma +

Clear Cell Odontogenic Carcinoma +

Clear Cell Sarcoma Of Soft Tissue +

Clear Cell Sarcoma Of The Kidney +

Clear Cell Squamous Cell Skin Carcinoma +

Colorectal Neuroendocrine Tumor +

Endometrial Mixed Adenocarcinoma +

Esophageal Adenocarcinoma +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Gallbladder Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hereditary Clear Cell Renal Cell Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intrahepatic Cholangiocarcinoma +

Kidney Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Laryngeal Squamous Cell Carcinoma +

Leiomyosarcoma +

Lung Neuroendocrine Neoplasm +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Serous Adenocarcinoma +

Prostate Small Cell Carcinoma +

Rectal Adenocarcinoma +

Skin Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Thymic Clear Cell Carcinoma +

Undifferentiated Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 6. 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.