Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E343fs
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ATM

NM_000051.4:p.E343fs

Associated Papers

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information

Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.

Sinan H et al.

Jco Precision Oncology, 2025

Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.

Schwartz CJ et al.

Breast Cancer Research and Treatment, 2024

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_

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_sm.pdf

ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.

El Jabbour T et al.

Journal of the National Cancer Institute, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2019

Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.

Walker EJ et al.

Familial Cancer, 2019

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

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
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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."