Overview

Location [1]
1p34.1
Pathway
DNA damage/repair
Protein [2]
Adenine DNA glycosylase
Synonyms [1]
MYH

The mutY homolog (MUTYH) gene encodes a protein that functions in oxidative DNA damage repair. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

MUTYH is altered in 1.02% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

MUTYH GENIE Cases - Top Diseases

The most common alterations in MUTYH are MUTYH Mutation (0.93%), MUTYH Amplification (0.11%), MUTYH Loss (0.05%), MUTYH A416T (0.03%), and MUTYH R531W (0.02%) [3].

MUTYH GENIE Cases - Top Alterations

Significance of MUTYH in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Urothelial Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cholangiocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Ampulla Of Vater Carcinoma +

Small Cell Lung Carcinoma +

Malignant Ovarian Epithelial Tumor +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Anal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Kidney Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Soft Tissue Sarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

Mesothelioma +

Mantle Cell Lymphoma +

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

Penile Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar 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.