Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1072*
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ATM

NM_000051.4:p.E1072*

Associated Papers

The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.

Guerra J et al.

Ebiomedicine, 2025

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Novel ATM Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report

Aljamal AA et al.

Diseases (basel, Switzerland), 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M et al.

Clinical Neurology and Neurosurgery, 2020

Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.

Hutchings D et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Variant ataxia-telangiectasia with prominent camptocormia.

Paucar M et al.

Parkinsonism & Related Disorders, 2019

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

ATM mutations in patients with hereditary pancreatic cancer.

Roberts NJ et al.

Cancer Discovery, 2012

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J et al.

Neuromolecular Medicine, 2011

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Mitui M et al.

Annals of Human Genetics, 2005

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Telatar M et al.

American Journal of Human Genetics, 1998

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar M et al.

American Journal of Human Genetics, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."