Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
2p21-p16.3
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
DNA mismatch repair protein Msh2
Synonyms [1]
HNPCC1, HNPCC, LCFS2, COCA1, FCC1

The mutS homolog 2 (MSH2) gene encodes a protein that functions in DNA-mismatch repair. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

MSH2 is altered in 1.97% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, malignant glioma, uterine corpus neoplasm, and breast carcinoma having the greatest prevalence of alterations [3].

MSH2 GENIE Cases - Top Diseases

The most common alterations in MSH2 are MSH2 Mutation (1.80%), MSH2 Mutation (germline) (1.80%), MSH2 Nonsense (0.29%), MSH2 Frameshift (0.18%), and MSH2 Amplification (0.06%) [3].

MSH2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MSH2 in Diseases

Colorectal Carcinoma +

Malignant Solid Tumor +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Endometrial Adenocarcinoma +

Pancreatic Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Endometrial Carcinoma +

Breast Carcinoma +

Renal Cell Carcinoma +

Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Bladder Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ovarian Carcinoma +

Hepatocellular Carcinoma +

Merkel Cell Carcinoma +

Head And Neck Carcinoma +

Skin Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Esophageal Carcinoma +

Mesothelioma +

Colorectal Adenocarcinoma +

Glioma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Basal Cell Carcinoma +

Hodgkin Lymphoma +

Colon Adenocarcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Uterine Corpus Carcinosarcoma +

Non-Hodgkin Lymphoma +

Sarcoma +

Prostate Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Vulvar Carcinoma +

Endometrioid Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Skin Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Thyroid Gland Carcinoma +

Gallbladder Carcinoma +

Bladder Urothelial Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Ovarian Endometrioid Tumor +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

Lung Adenocarcinoma +

Esophagogastric Carcinoma +

Malignant Ovarian Epithelial Tumor +

Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Cervical Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Cholangiocarcinoma +

Esophageal Adenocarcinoma +

Anaplastic Astrocytoma +

Salivary Gland Carcinoma +

Non-Clear Cell Renal Cell Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

Cancer +

Carcinoma Of Unknown Primary Origin +

Carcinosarcoma +

Cervical Clear Cell Adenocarcinoma +

Classical Hodgkin Lymphoma +

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 +

Endometrial Undifferentiated Carcinoma +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Hereditary Clear Cell Renal Cell Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Salivary Gland Neoplasm +

Ovarian Endometrioid Adenocarcinofibroma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Thymic Clear Cell Carcinoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

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.