Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
DNA damage/repair
Protein [2]
Serine-protein kinase ATM
Synonyms [1]

ATM serine/threonine kinase (ATM) is a gene that encodes a protein that is a member of the PI3/PI4-kinase family. The protein functions as a cell cycle checkpoint kinase and regulates multiple downstream effectors. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

ATM is altered in 5.58% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, prostate adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

ATM GENIE Cases - Top Diseases

The most common alterations in ATM are ATM Mutation (5.16%), ATM Nonsense (0.92%), ATM Frameshift (0.68%), ATM Loss (0.21%), and ATM R337C (0.12%) [3].

ATM GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ATM in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Gastric Adenocarcinoma +

Melanoma +

Endometrial Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Bladder Carcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Bladder Urothelial Carcinoma +

Lymphoma +

Squamous Cell Lung Carcinoma +

Malignant Central Nervous System Neoplasm +

Multiple Myeloma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Mantle Cell Lymphoma +

Prolymphocytic Leukemia +

Vaginal Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Lung Carcinoma +

Malignant Gastric Neoplasm +

Gallbladder Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Medulloblastoma +

Biliary Tract Carcinoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Cancer +

Malignant Esophagogastric Neoplasm +

Glioblastoma +

Renal Cell Carcinoma +

Malignant Mesothelioma +

Glioma +

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

Anal Carcinoma +

Malignant Ovarian Epithelial Tumor +

Leiomyosarcoma +

Penile Carcinoma +

Esophageal Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Anaplastic Astrocytoma +

Invasive Breast Carcinoma +

Sarcoma +

Neuroblastoma +

Low Grade Ovarian Serous Adenocarcinoma +

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myeloid Leukemia +

Langerhans Cell Histiocytosis +

Rhabdomyosarcoma +

Acute Lymphoblastic Leukemia +

Bronchogenic Carcinoma +

Chronic Lymphocytic Leukemia +

Ewing Sarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Histiocytic Sarcoma +

Juvenile Xanthogranuloma +

Ovarian Clear Cell Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.