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, HSAP, HNPCC5, 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.

MSH6 is altered in 2.45% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, uterine corpus neoplasm, breast carcinoma, and malignant glioma 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

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 +

Renal Cell Carcinoma +

Breast Carcinoma +

Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Bladder Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Merkel Cell Carcinoma +

Head And Neck Carcinoma +

Skin Squamous Cell Carcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Colorectal Adenocarcinoma +

Glioma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Fallopian Tube Carcinoma +

Colon Adenocarcinoma +

Endometrial Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Basal Cell Carcinoma +

Endometrial Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Sarcoma +

Prostate Adenocarcinoma +

Anal Carcinoma +

Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Vulvar Carcinoma +

Endometrial Undifferentiated Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Endometrioid Adenocarcinoma +

Ovarian Endometrioid Adenocarcinoma +

Skin Carcinoma +

Penile Carcinoma +

Ovarian Endometrioid Tumor +

Cervical Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Esophagogastric Carcinoma +

Glioblastoma +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

B-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Anaplastic Astrocytoma +

Lung Adenocarcinoma +

Esophageal Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Gallbladder Carcinoma +

Squamous Cell Lung Carcinoma +

Salivary Gland 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 +

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 +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Thymic Clear Cell Carcinoma +

Thyroid Gland 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.