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, HNPCC5, GTMBP, GTBP, HSAP

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 F1088Lfs*5 (0.13%), MSH6 F1088Sfs*2 (0.10%), MSH6 Amplification (0.06%), and MSH6 T1219I (0.04%) [3].

MSH6 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of MSH6 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 +

Endometrial Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Merkel Cell Carcinoma +

Ovarian Carcinoma +

Bladder Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Skin Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Colon Adenocarcinoma +

Cancer +

Esophagogastric Carcinoma +

Rectal Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Biliary Tract Carcinoma +

Sarcoma +

Pancreatic Adenocarcinoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Clear Cell Adenocarcinoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Salivary Gland Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Adenocarcinoma +

Malignant Uterine Neoplasm +

Colon Carcinoma +

Bladder Urothelial Carcinoma +

Cutaneous Melanoma +

Clear Cell Renal Cell Carcinoma +

Glioma +

Neuroendocrine Carcinoma +

Central Nervous System Neoplasm +

Lymphoma +

Squamous Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Endometrioid Adenocarcinoma +

Skin Carcinoma +

Ovarian Endometrioid Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Adenocarcinoma +

Malignant Glioma +

Glioblastoma +

Carcinoma +

Uterine Corpus Carcinosarcoma +

Pancreatic Neuroendocrine Tumor +

Leiomyosarcoma +

Anaplastic Astrocytoma +

Acute Myeloid Leukemia +

Kidney Carcinoma +

Malignant Esophagogastric Neoplasm +

Appendix Carcinoma +

Lung Carcinoma +

Esophageal Adenocarcinoma +

Malignant Gastric Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Bile Duct Carcinoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Appendix Neuroendocrine Tumor +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

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 +

Ependymoma +

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 +

Large Cell Lung Carcinoma, Clear Cell Variant +

Liposarcoma +

Lung Neuroendocrine Neoplasm +

Malignant Brain Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Medulloblastoma +

Mucosal Melanoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Ocular Melanoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Ovarian Endometrioid Adenocarcinofibroma +

Pecoma +

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 Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Thymic Clear Cell Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

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.