Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1850delFs
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ATM

NM_000051.4:p.L1850delFs

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

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_

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s002.xlsx › Table_S1B

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

Lu HM et al.

Jama Oncology, 2019

Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.

Maciejczyk M et al.

Frontiers in Immunology, 2019

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.

Hu C et al.

Jco Precision Oncology, 2018

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

Mitui M et al.

Annals of Human Genetics, 2005

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

Castellví-Bel S et al.

Human Mutation, 1999

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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."