Gene Location [1]
Chromatin remodeling/DNA methylation
Variant Type
Large Deletion

Significance of MSH6 Large Deletion in Diseases

Colorectal Carcinoma +

Malignant Solid Tumor +

Gastric Carcinoma +

Endometrial Carcinoma +

Breast Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Bladder Carcinoma +

Endometrial Serous Adenocarcinoma +

Fallopian Tube Carcinoma +

Glioma +

Hepatocellular Carcinoma +

Urothelial Carcinoma +

Bone Sarcoma +

Cancer +

Cervical Carcinoma +

Endometrial Adenocarcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrioid Adenocarcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Lung Adenocarcinoma +

Malignant Brain Neoplasm +

Non-Hodgkin Lymphoma +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Pancreatic Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Prostate Carcinoma +

Skin Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Ureter Urothelial Carcinoma +

Uterine Corpus Carcinosarcoma +


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.