Gene Location [1]
Chromatin remodeling/DNA methylation

MSH6 Mutation is present in 2.31% of AACR GENIE cases, with colorectal adenocarcinoma, non-small cell lung carcinoma, uterine corpus neoplasm, breast carcinoma, and malignant glioma having the greatest prevalence [4].

Top Disease Cases with MSH6 Mutation

Significance of MSH6 Mutation in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Glioma +

Fallopian Tube Carcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrial Adenocarcinoma +

Skin Carcinoma +

Cervical Carcinoma +

Uterine Corpus Carcinosarcoma +

Glioblastoma +

Head And Neck Carcinoma +

Anaplastic Astrocytoma +

Lung Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Sarcoma +

Squamous Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Cancer +

Malignant Brain Neoplasm +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Ureter Urothelial Carcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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