Overview

Location [1]
5q14.1
Protein [2]
DNA mismatch repair protein Msh3
Synonyms [1]
FAP4, MRP1, DUP

MutS homolog 3 (MSH3) is a gene that encodes a protein that is a component of MutS beta - a post-replicative DNA mismatch repair system. The protein functions in DNA mismatch repair. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

MSH3 is altered in 2.28% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, prostate adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].

MSH3 GENIE Cases - Top Diseases

The most common alterations in MSH3 are MSH3 Mutation (1.32%), MSH3 A60_A62dup (2.37%), MSH3 Loss (0.11%), MSH3 A61_P63dup (0.32%), and MSH3 Amplification (0.02%) [3].

MSH3 GENIE Cases - Top Alterations

Significance of MSH3 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Intestinal Neoplasm +

Uveal Melanoma +

Melanoma +

Malignant Uterine Neoplasm +

Ampulla Of Vater Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Gallbladder Carcinoma +

Urothelial Carcinoma +

Head And Neck Carcinoma +

Lung Carcinoma +

Small Cell Lung Carcinoma +

Malignant Ovarian Epithelial Tumor +

Bile Duct Carcinoma +

Pancreatic Adenocarcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Anal Carcinoma +

Bronchogenic Carcinoma +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Mantle Cell Lymphoma +

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

Mesothelioma +

Penile Carcinoma +

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. 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.

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