Overview

Gene Location [1]
3p22.2
Pathway
DNA damage/repair
Gene
MLH1

AACR GENIE data is not categorized as Somatic or Germline. To see GENIE data for this alteration, click here.

Biomarker-Directed Therapies

Significance of MLH1 Mutation (germline) in Diseases

Colorectal Carcinoma +

Malignant Solid Tumor +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Endometrial Adenocarcinoma +

Pancreatic Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Merkel Cell Carcinoma +

Skin Squamous Cell Carcinoma +

Mesothelioma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Ovarian Carcinoma +

Colorectal Adenocarcinoma +

Basal Cell Carcinoma +

Colon Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Anal Carcinoma +

Glioma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Vulvar Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Endometrial Clear Cell Adenocarcinoma +

Skin Carcinoma +

Cervical Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Gallbladder Carcinoma +

Clear Cell Renal Cell Carcinoma +

Thyroid Gland Carcinoma +

Peritoneal Mesothelioma +

Esophageal Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Pleural Mesothelioma +

Prostate Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Non-Clear Cell Renal Cell Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

Esophagogastric Carcinoma +

Cholangiocarcinoma +

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 +

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 Carcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Hereditary Clear Cell Renal Cell Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Lynch Syndrome +

Malignant Salivary Gland Neoplasm +

Non-Hodgkin Lymphoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Thymic Clear Cell Carcinoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

References

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. 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 4. 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.