Associated Genetic Biomarkers
Associated Diseases

Overview

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

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 1.16% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, prostate adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

MSH3 GENIE Cases - Top Diseases

The most common alterations in MSH3 are MSH3 Mutation (0.40%), MSH3 K383Rfs*32 (0.17%), MSH3 Loss (0.03%), MSH3 Amplification (0.00%), and MSH3 D595G (0.00%) [3].

MSH3 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MSH3 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Cervical Carcinoma +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Merkel Cell Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Prostate Adenocarcinoma +

Bladder Carcinoma +

Mesothelioma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Skin Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Classical Hodgkin Lymphoma +

Esophagogastric Carcinoma +

Cancer +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Rectal Adenocarcinoma +

Salivary Gland Carcinoma +

Thyroid Gland Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Adenocarcinoma +

Cutaneous Melanoma +

Malignant Uterine Neoplasm +

Glioma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Malignant Ovarian Epithelial Tumor +

Neuroendocrine Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Sarcoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Gastric Neoplasm +

Adenocarcinoma +

Carcinoma +

Malignant Esophagogastric Neoplasm +

Lung Carcinoma +

Central Nervous System Neoplasm +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

Chondrosarcoma +

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 +

Colorectal Neuroendocrine Tumor +

Constitutional Mismatch Repair Deficiency Syndrome +

Desmoid-Type Fibromatosis +

Endometrial Mixed Adenocarcinoma +

Esophageal Adenocarcinoma +

Ewing Sarcoma +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Gallbladder Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hereditary Clear Cell Renal Cell Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intrahepatic Cholangiocarcinoma +

Kidney Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Leiomyosarcoma +

Liposarcoma +

Lung Neuroendocrine Neoplasm +

Lymphoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Mucosal Melanoma +

Non-Clear Cell Renal Cell Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Ocular Melanoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pharyngeal Squamous Cell Carcinoma +

Pleural Mesothelioma +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Skin Basosquamous Cell Carcinoma +

Skin Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Lung Carcinoma +

Thymic Clear Cell Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell Carcinoma +

Xeroderma Pigmentosum +

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 6. 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.