Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
22q12.1
Pathway
Cell cycle control
Protein [2]
Serine/threonine-protein kinase Chk2
Synonyms [1]
CHK2, hCds1, LFS2, RAD53, HuCds1, CDS1, 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.

CHEK2 is altered in 1.54% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

CHEK2 GENIE Cases - Top Diseases

The most common alterations in CHEK2 are CHEK2 Mutation (1.15%), CHEK2 Nonsense (0.13%), CHEK2 Loss (0.13%), CHEK2 Amplification (0.13%), and CHEK2 R519G (0.12%) [3].

CHEK2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of CHEK2 in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Non-Hodgkin Lymphoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Soft Tissue Sarcoma +

Bladder Urothelial Carcinoma +

Melanoma +

Colorectal Carcinoma +

Squamous Cell Lung Carcinoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Esophageal Adenocarcinoma +

Pancreatic Carcinoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Cholangiocarcinoma +

Vaginal Carcinoma +

Penile Carcinoma +

Bladder Carcinoma +

Anal Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

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

Renal Cell Carcinoma +

Kidney Carcinoma +

Leiomyosarcoma +

Malignant Gastric Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Hepatocellular Carcinoma +

Malignant Ovarian Epithelial Tumor +

Invasive Breast Carcinoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

Biliary Tract Carcinoma +

Ampulla Of Vater Carcinoma +

Malignant Mesothelioma +

Mantle Cell Lymphoma +

Rhabdomyosarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Mesothelioma +

Bile Duct Adenocarcinoma +

Neuroblastoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

Multiple Myeloma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Uveal Melanoma +

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.