Overview

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

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 1.83% of all cancers with colorectal adenocarcinoma, uterine corpus neoplasm, non-small cell lung carcinoma, breast carcinoma, and melanoma having the greatest prevalence of alterations [3].

MSH3 GENIE Cases - Top Diseases

The most common alterations in MSH3 are MSH3 Mutation (0.40%), MSH3 Mutation (germline) (0.40%), MSH3 K383Rfs*32 (0.17%), MSH3 Loss (0.03%), and MSH3 X1001_splice (0.01%) [3].

MSH3 GENIE Cases - Top Alterations

Significance of MSH3 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Fallopian Tube Carcinoma +

Glioma +

Skin Carcinoma +

Gastric Adenocarcinoma +

Endometrial Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Squamous Cell Lung Carcinoma +

Endometrial Serous Adenocarcinoma +

Prostate Carcinoma +

Lung Adenocarcinoma +

Pancreatic Adenocarcinoma +

Cancer +

Cervical Carcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Carcinoma +

Malignant Brain Neoplasm +

Non-Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Ureter Urothelial 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. 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.

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