Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1267fs
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ATM

NM_000051.4:p.E1267fs

Associated Papers

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

Zhou N et al.

Journal of Translational Medicine, 2025

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Magnarelli A et al.

The Journal of Allergy and Clinical Immunology, 2025

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.

Yu Y et al.

Hgg Advances, 2022

35047863 (PubMed )
Supplement: mmc1.pdf

A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Rotunno M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL et al.

Breast Cancer Research : Bcr, 2018

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G et al.

Leukemia, 2017

28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC et al.

Gastroenterology, 2015

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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."