Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
DNA damage/repair

MLH1 Mutation is present in 0.98% of AACR GENIE cases, with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and breast invasive ductal carcinoma having the greatest prevalence [4].

Top Disease Cases with MLH1 Mutation

Biomarker-Directed Therapies

Significance of MLH1 Mutation in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Merkel Cell Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Esophageal Carcinoma +

Skin Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Classical Hodgkin Lymphoma +

Rectal Adenocarcinoma +

Non-Hodgkin Lymphoma +

Cancer +

Biliary Tract Carcinoma +

Thyroid Gland Carcinoma +

Esophagogastric Carcinoma +

Pancreatic Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Salivary Gland Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Adenocarcinoma +

Malignant Uterine Neoplasm +

Bladder Urothelial Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Cutaneous Melanoma +

Clear Cell Renal Cell Carcinoma +

Glioma +

Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Ovarian Epithelial Tumor +

Sarcoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Skin Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Pleural Mesothelioma +

Pleural Mesothelioma +

Malignant Intestinal Neoplasm +

Pancreatic Neuroendocrine Tumor +

Adenocarcinoma +

Carcinoma +

Lung Neuroendocrine Neoplasm +

Kidney Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Central Nervous System Neoplasm +

Esophageal Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Lung Carcinoma +

Bile Duct Carcinoma +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

Bladder Clear Cell Adenocarcinoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

Chondrosarcoma +

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 +

Constitutional Mismatch Repair Deficiency Syndrome +

Desmoid-Type Fibromatosis +

Endometrial Mixed Adenocarcinoma +

Ewing Sarcoma +

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 +

Large Cell Lung Carcinoma, Clear Cell Variant +

Leiomyosarcoma +

Liposarcoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Mucosal Melanoma +

Non-Clear Cell Renal Cell Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Ocular Melanoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Pecoma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pharyngeal Squamous Cell Carcinoma +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Skin Basosquamous Cell Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Thymic Clear Cell Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell Carcinoma +

Xeroderma Pigmentosum +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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