Overview

Location [1]
22q12.1
Pathway
Cell cycle control
Protein [2]
Serine/threonine-protein kinase Chk2
Synonyms [1]
HuCds1, CHK2, LFS2, CDS1, RAD53, PP1425, hCds1

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 1.60% of all cancers with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, and bladder carcinoma having the greatest prevalence of alterations [3].

CHEK2 GENIE Cases - Top Diseases

The most common alterations in CHEK2 are CHEK2 Mutation (1.40%), CHEK2 Mutation (germline) (1.40%), CHEK2 Amplification (0.10%), CHEK2 Frameshift (0.10%), and CHEK2 Frameshift (germline) (0.10%) [3].

CHEK2 GENIE Cases - Top Alterations

Significance of CHEK2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Primary Peritoneal Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Vaginal Carcinoma +

Bladder Carcinoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Esophageal Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

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

Lung Adenocarcinoma +

Renal Cell Carcinoma +

Leiomyosarcoma +

Diffuse Large B-Cell Lymphoma +

Anal Carcinoma +

Osteosarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Mesothelioma +

Soft Tissue Sarcoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Multiple Myeloma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Uveal Melanoma +

Vulvar Carcinoma +

References

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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.