Overview

Gene Location [1]
2p21-p16.3
Pathway
Chromatin remodeling/DNA methylation
Gene
MSH2

MSH2 Mutation is present in 1.55% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with MSH2 Mutation

Significance of MSH2 Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Colorectal Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Non-Small Cell Lung Carcinoma +

Cervical Carcinoma +

Bladder Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Carcinoma +

Non-Hodgkin Lymphoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Cholangiocarcinoma +

Fallopian Tube Carcinoma +

Penile Carcinoma +

Malignant Uterine Neoplasm +

Malignant Small Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Glioblastoma +

Gallbladder Carcinoma +

Small Cell Lung Carcinoma +

Anal Carcinoma +

Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Diffuse Large B-Cell Lymphoma +

Pancreatic Adenocarcinoma +

Sarcoma +

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

Mesothelioma +

Anaplastic Astrocytoma +

Bile Duct Carcinoma +

Clear Cell Renal Cell Carcinoma +

Lymphoma +

Ampulla Of Vater Carcinoma +

Bronchogenic Carcinoma +

Esophageal Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

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.