Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
2p16.3
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
DNA mismatch repair protein Msh6
Synonyms [1]
GTBP, GTMBP, HNPCC5, HSAP, p160

MutS homolog 6 (MSH6) is a gene that encodes a protein that is a member of the DNA mismatch repair MutS family. The protein functions in the recognition of mismatched nucleotides and prepares them for repair. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

MSH6 is altered in 2.09% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

MSH6 GENIE Cases - Top Diseases

The most common alterations in MSH6 are MSH6 Mutation (2.34%), MSH6 Mutation (germline) (2.34%), MSH6 F1088Lfs*5 (0.13%), MSH6 F1088Sfs*2 (0.10%), and MSH6 Amplification (0.06%) [3].

MSH6 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MSH6 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Endometrial Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Bladder Carcinoma +

Merkel Cell Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Head And Neck Carcinoma +

Skin Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Anal Carcinoma +

Fallopian Tube Carcinoma +

Prostate Adenocarcinoma +

Soft Tissue Sarcoma +

Glioma +

Endometrial Serous Adenocarcinoma +

Biliary Tract Carcinoma +

Sarcoma +

Thyroid Gland Carcinoma +

Classical Hodgkin Lymphoma +

Endometrial Clear Cell Adenocarcinoma +

Gallbladder Carcinoma +

Hodgkin Lymphoma +

Colon Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Cancer +

Esophagogastric Carcinoma +

Squamous Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

Non-Hodgkin Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Basal Cell Carcinoma +

Carcinosarcoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Nasopharyngeal Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Salivary Gland Carcinoma +

Vulvar Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrioid Adenocarcinoma +

Skin Carcinoma +

Malignant Uterine Corpus Neoplasm +

Malignant Uterine Neoplasm +

Ovarian Endometrioid Tumor +

Colon Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Glioblastoma +

Clear Cell Renal Cell Carcinoma +

Leiomyosarcoma +

Anaplastic Astrocytoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Rectal Adenocarcinoma +

Lung Adenocarcinoma +

Appendix Carcinoma +

Lymphoma +

Lung Carcinoma +

Esophageal Adenocarcinoma +

Malignant Gastric Neoplasm +

Non-Clear Cell Renal Cell Carcinoma +

Bile Duct Carcinoma +

Squamous Cell Lung Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

Bronchioloalveolar Carcinoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

Cervical Squamous Cell Carcinoma +

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 Mixed Adenocarcinoma +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hereditary Clear Cell Renal Cell Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Hypopharyngeal Squamous Cell Carcinoma +

Intrahepatic Cholangiocarcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Multiple Myeloma +

Oral Cavity Squamous Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Serous Adenocarcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Thymic Clear Cell Carcinoma +

Undifferentiated Sarcoma +

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_20171026. 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.