Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
DNA damage/repair
Protein [2]
DNA mismatch repair protein Mlh1
Synonyms [1]

The mutL homolog 1 (MLH1) gene encodes a protein that functions in the DNA-mismatch repair process. 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 skin cancer.

MLH1 is altered in 1.27% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, uterine corpus neoplasm, breast carcinoma, and melanoma having the greatest prevalence of alterations [3].

MLH1 GENIE Cases - Top Diseases

The most common alterations in MLH1 are MLH1 Mutation (1.42%), MLH1 Mutation (germline) (1.42%), MLH1 Frameshift (0.17%), MLH1 Nonsense (0.16%), and MLH1 Amplification (0.05%) [3].

MLH1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MLH1 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Endometrial Adenocarcinoma +

Pancreatic Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Breast Carcinoma +

Endometrial Carcinoma +

Renal Cell Carcinoma +

Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Bladder Carcinoma +

Prostate Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ovarian Carcinoma +

Hepatocellular Carcinoma +

Mesothelioma +

Merkel Cell Carcinoma +

Skin Squamous Cell Carcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Diffuse Large B-Cell Lymphoma +

Colorectal Adenocarcinoma +

Glioma +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Basal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Colon Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Anal Carcinoma +

Uterine Corpus Carcinosarcoma +

Endometrial Serous Adenocarcinoma +

Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Vulvar Carcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrioid Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Ovarian Endometrioid Adenocarcinoma +

Mantle Cell Lymphoma +

Skin Carcinoma +

Cervical Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Tumor +

Gallbladder Carcinoma +

Thyroid Gland Carcinoma +

Peritoneal Mesothelioma +

Histiocytic And Dendritic Cell Neoplasm +

Esophageal Adenocarcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Pleural Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Non-Clear Cell Renal Cell Carcinoma +

Malignant Ovarian Clear Cell Tumor +

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

Ovarian Clear Cell Tumor +

Lung Adenocarcinoma +

Esophagogastric Carcinoma +

Sarcoma +

Salivary Gland Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

Cancer +

Carcinoma Of Unknown Primary Origin +

Carcinosarcoma +

Cervical Clear Cell Adenocarcinoma +

Classical Hodgkin Lymphoma +

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 +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Hereditary Clear Cell Renal Cell Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Salivary Gland Neoplasm +

Ovarian Endometrioid Adenocarcinofibroma +

Penile Carcinoma +

Primary Peritoneal Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Thymic Clear Cell Carcinoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 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.