Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
11q24.2
Pathway
Cell cycle control
Protein [2]
Serine/threonine-protein kinase Chk1
Synonyms [1]
CHK1

Checkpoint kinase 1 (CHEK1) is a gene that encodes a protein that is a member of the serine/threonine kinase family. The protein functions in the cell cycle arrest response to DNA damage or unreplicated DNA. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

CHEK1 is altered in 0.79% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

CHEK1 GENIE Cases - Top Diseases

The most common alterations in CHEK1 are CHEK1 Mutation (0.54%), CHEK1 Loss (0.12%), CHEK1 Amplification (0.06%), CHEK1 K225E (0.05%), and CHEK1 N356H (0.07%) [3].

CHEK1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of CHEK1 in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Melanoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Head And Neck Carcinoma +

Gastrointestinal Stromal Tumor +

Pancreatic Ductal Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Neuroblastoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Medulloblastoma +

Anal Carcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Ampulla Of Vater Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

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

Malignant Esophagogastric Neoplasm +

Mantle Cell Lymphoma +

Multiple Myeloma +

Glioma +

Malignant Central Nervous System Neoplasm +

Renal Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Leiomyosarcoma +

Biliary Tract Carcinoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Ewing Sarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Malignant Mesothelioma +

Ovarian Clear Cell Adenocarcinoma +

Penile Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Rhabdomyosarcoma +

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.