Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
2p16.3
Pathway
Chromatin remodeling/DNA methylation
Synonyms [1]
p160, GTMBP, HSAP, HNPCC5, MMRCS3, GTBP

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.

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 +

Anal Carcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Esophageal Squamous Cell Carcinoma +

Basal Cell Carcinoma +

Soft Tissue Sarcoma +

Biliary Tract Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Cutaneous Melanoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Serous Adenocarcinoma +

Esophagogastric Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Hodgkin Lymphoma +

Malignant Uterine Neoplasm +

Nasopharyngeal Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Rectal Adenocarcinoma +

Salivary Gland Carcinoma +

Sarcoma +

Squamous Cell Carcinoma +

Thyroid Gland Carcinoma +

Vulvar Carcinoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Cancer +

Central Nervous System Neoplasm +

Cervical Squamous Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Gallbladder Carcinoma +

Glioblastoma +

Glioma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Intrahepatic Cholangiocarcinoma +

Lung Adenocarcinoma +

Lymphoma +

Malignant Ovarian Epithelial Tumor +

Neuroendocrine Carcinoma +

Non-Clear Cell Renal Cell Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Endometrioid Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vaginal Carcinoma +

Acral Lentiginous Melanoma +

Acute Myeloid Leukemia +

Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Anaplastic Astrocytoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bone Sarcoma +

Bronchogenic Carcinoma +

Carcinoma +

Carcinoma Of Unknown Primary +

Carcinosarcoma +

Chondrosarcoma +

Clear Cell Renal Cell Carcinoma +

Colon Neuroendocrine Neoplasm +

Desmoid-Type Fibromatosis +

Endometrial Mixed Adenocarcinoma +

Endometrioid Adenocarcinoma +

Ependymoma +

Ewing Sarcoma +

Extrahepatic Cholangiocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Gallbladder Adenocarcinoma +

Gastrointestinal Stromal Tumor +

High-Grade Endometrial Stromal Sarcoma +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Leiomyosarcoma +

Liposarcoma +

Lung Carcinoma +

Lung Neuroendocrine Neoplasm +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Glioma +

Malignant Intestinal Neoplasm +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Corpus 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 +

Oral Cavity Squamous Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Clear Cell Tumor +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Endometrioid Tumor +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural 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 +

Skin Carcinoma +

Small Intestinal Adenocarcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Lung Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Uterine Corpus Carcinosarcoma +

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.