Overview

Gene Location [1]
14q24.3
Gene
MLH3

MLH3 Mutation is present in 2.53% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and glioblastoma having the greatest prevalence [4].

Top Disease Cases with MLH3 Mutation

Significance of MLH3 Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Uterine Neoplasm +

Small Cell Lung Carcinoma +

Lung Carcinoma +

Malignant Small Intestinal Neoplasm +

Bile Duct Carcinoma +

Bladder Carcinoma +

Malignant Intestinal Neoplasm +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Malignant Ovarian Epithelial Tumor +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

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

Mesothelioma +

Gastrointestinal Stromal Tumor +

Pancreatic Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Esophageal Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bronchogenic Carcinoma +

Esophageal Squamous Cell Carcinoma +

Mantle Cell Lymphoma +

Penile Carcinoma +

Prostate Small Cell Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.