Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q418Q
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ATM

NM_000051.4:p.Q418Q

Associated Papers

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Cancers, 2020

32756499 (PubMed )
Supplement: cancers-12-02151-s001.pdf

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s001.xlsx › Sheet1

Molecular defects in Moroccan patients with ataxia-telangiectasia.

Jeddane L et al.

Neuromolecular Medicine, 2013

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

Brunet J et al.

Clinical Genetics, 2008

Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

Edvardsen H et al.

Radiation Oncology (london, England), 2007

17623063 (PubMed )
Supplement: 1748-717X-2-25-S1.xls › Sheet1

Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.

Meier M et al.

Leukemia, 2005

Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study.

Berstein JL et al.

Radiation Research, 2005

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

Bernstein JL et al.

Human Mutation, 2003

ATM gene alterations in childhood acute lymphoblastic leukemias.

Gumy Pause F et al.

Human Mutation, 2003

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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."