Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
3q23
Pathway
DNA damage/repair
Protein [2]
Serine/threonine-protein kinase ATR
Synonyms [1]
SCKL1, FCTCS, FRP1, SCKL, MEC1

ATR serine/threonine kinase (ATR) is a gene that encodes a protein that is a member of the PI3/PI4-kinase family. The protein functions in the phosphorylation of checkpoint kinase CHK1, RAD17, RAD9, and tumor suppressor protein BRCA1 - proteins that are involved in the cell cycle and DNA damage signaling pathways. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

ATR is altered in 2.77% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

ATR GENIE Cases - Top Diseases

The most common alterations in ATR are ATR Mutation (2.43%), ATR Amplification (0.21%), ATR Frameshift (0.17%), ATR Deletion (0.03%), and ATR R1814Efs*10 (0.01%) [3].

ATR GENIE Cases - Top Alterations

Significance of ATR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bladder Carcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Soft Tissue Sarcoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Bladder Urothelial Carcinoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Anaplastic Astrocytoma +

Glioblastoma +

Malignant Esophagogastric Neoplasm +

Cancer +

Invasive Breast Carcinoma +

Leiomyosarcoma +

Biliary Tract Carcinoma +

Malignant Mesothelioma +

Mesothelioma +

Bile Duct Adenocarcinoma +

Lymphoma +

Malignant Ovarian Epithelial Tumor +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Sarcoma +

Kidney Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

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 6. 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.