Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
22q12.1
Pathway
Cell cycle control
Synonyms [1]
RAD53, CHK2, CDS1, hCds1, LFS2, HuCds1, PP1425

Checkpoint kinase 2 (CHEK2) is a gene that encodes a protein that functions as a regulator of the cell cycle as well as a tumor suppressor. The protein is activated in the presence of DNA damage in order to prevent entry into mitosis. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as cancers of the central nervous system, endometrial cancer, and intestinal cancer.

Biomarker-Directed Therapies

Significance of CHEK2 in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Melanoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Urothelial Carcinoma +

Head And Neck Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Biliary Tract Carcinoma +

Bronchogenic Carcinoma +

Cholangiocarcinoma +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Glioma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Invasive Breast Carcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Lung Carcinoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Renal Cell Carcinoma +

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.