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]
p160, GTMBP, MMRCS3, GTBP, HSAP, HNPCC5

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 2.44% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

MSH6 GENIE Cases - Top Diseases

The most common alterations in MSH6 are MSH6 Mutation (1.86%), MSH6 Amplification (0.06%), MSH6 Fusion (0.14%), MSH6 T1219I (0.05%), and MSH6 Loss (0.05%) [3].

MSH6 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MSH6 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Endometrial Carcinoma +

Endometrial Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Breast Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Merkel Cell Carcinoma +

Prostate Adenocarcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Prostate Carcinoma +

Esophageal Carcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Skin Squamous Cell Carcinoma +

Colorectal Adenocarcinoma +

Head And Neck Carcinoma +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Basal Cell Carcinoma +

Soft Tissue Sarcoma +

Malignant Uterine Neoplasm +

Nasopharyngeal Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Squamous Cell Carcinoma +

Cutaneous Melanoma +

Esophagogastric Carcinoma +

Diffuse Large B-Cell Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Biliary Tract Carcinoma +

Rectal Adenocarcinoma +

Salivary Gland Carcinoma +

Endometrial Serous Adenocarcinoma +

Lymphoma +

Pancreatic Adenocarcinoma +

Sarcoma +

Thyroid Gland Carcinoma +

Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Vulvar Carcinoma +

Endometrial Undifferentiated Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Endometrial Endometrioid Adenocarcinoma +

Ovarian Endometrioid Adenocarcinoma +

Thymic Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Endometrial Clear Cell Adenocarcinoma +

Bladder Urothelial Carcinoma +

Glioblastoma +

Anal Squamous Cell Carcinoma +

Cervical Squamous Cell Carcinoma +

Glioma +

Central Nervous System Neoplasm +

Neuroendocrine Carcinoma +

Cancer +

Lung Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Non-Clear Cell Renal Cell Carcinoma +

Gallbladder Carcinoma +

Intrahepatic Cholangiocarcinoma +

Non-Hodgkin Lymphoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Vaginal Carcinoma +

Penile Carcinoma +

Endometrioid Adenocarcinoma +

Skin Carcinoma +

Endometrial Mixed Adenocarcinoma +

Small Intestinal Adenocarcinoma +

Malignant Uterine Corpus Neoplasm +

Malignant Small Intestinal Neoplasm +

Ovarian Endometrioid Tumor +

Malignant Glioma +

Carcinoma Of Unknown Primary +

Malignant Intestinal Neoplasm +

Ovarian Clear Cell Tumor +

Clear Cell Renal Cell Carcinoma +

Desmoid-Type Fibromatosis +

Carcinoma +

Adenocarcinoma +

Ewing Sarcoma +

Oropharyngeal Squamous Cell Carcinoma +

Leiomyosarcoma +

Mucosal Melanoma +

Malignant Esophagogastric Neoplasm +

Non-Squamous Non-Small Cell Lung Carcinoma +

Lung Carcinoma +

Anaplastic Astrocytoma +

Appendix Carcinoma +

Squamous Cell Lung Carcinoma +

Malignant Gastric Neoplasm +

Bile Duct Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Carcinosarcoma +

Uterine Corpus Carcinosarcoma +

Ependymoma +

Malignant Salivary Gland Neoplasm +

Undifferentiated Pleomorphic Sarcoma +

Medulloblastoma +

Lung Neuroendocrine Neoplasm +

Malignant Pleural Mesothelioma +

Malignant Brain Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Multiple Myeloma +

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

Oral Cavity Squamous Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Chondrosarcoma +

Pleural Mesothelioma +

Acral Lentiginous Melanoma +

Osteosarcoma +

Extrahepatic Cholangiocarcinoma +

Small Intestinal Neuroendocrine Tumor +

Ampulla Of Vater Carcinoma +

Bone Sarcoma +

Mantle Cell Lymphoma +

Liposarcoma +

Acute Myeloid Leukemia +

Appendix Neuroendocrine Tumor +

Bronchogenic Carcinoma +

Colon Neuroendocrine Neoplasm +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Gallbladder Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Hypopharyngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Mediastinal Large B-Cell Lymphoma +

Ocular Melanoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Peritoneal Mesothelioma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Clear Cell Carcinoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Rectal Neuroendocrine Tumor +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Ureter Urothelial Carcinoma +

Vulvar Squamous Cell 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. 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.

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