Overview

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

MLH1 Mutation is present in 1.11% of AACR GENIE cases, with colorectal adenocarcinoma, non-small cell lung carcinoma, uterine corpus neoplasm, breast carcinoma, and melanoma having the greatest prevalence [4].

Top Disease Cases with MLH1 Mutation

Significance of MLH1 Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Melanoma +

Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Prostate Carcinoma +

Bladder Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Hepatocellular Carcinoma +

Glioma +

Cholangiocarcinoma +

Fallopian Tube Carcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrial Adenocarcinoma +

Skin Carcinoma +

Diffuse Large B-Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

Anal Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mesothelioma +

Squamous Cell Lung Carcinoma +

Esophageal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Gastric Adenocarcinoma +

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

Lung Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Cancer +

Malignant Brain Neoplasm +

Mantle Cell Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Ureter Urothelial Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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.