Overview

Gene Location [1]
11q24.2
Pathway
Cell cycle control
Gene
CHEK1

CHEK1 Mutation is present in 0.54% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, melanoma, and cutaneous melanoma having the greatest prevalence [4].

Top Disease Cases with CHEK1 Mutation

Biomarker-Directed Therapies

Significance of CHEK1 Mutation 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 +

Squamous Cell Lung Carcinoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Head And Neck Carcinoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Malignant Small Intestinal Neoplasm +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Medulloblastoma +

Anal Carcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

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

Malignant Esophagogastric Neoplasm +

Mantle Cell Lymphoma +

Glioma +

Malignant Central Nervous System Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Biliary Tract Carcinoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Ampulla Of Vater Carcinoma +

Ewing Sarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Leiomyosarcoma +

Malignant Mesothelioma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal 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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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