Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y54Y
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ATM

NM_000051.4:p.Y54Y

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

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_2

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

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

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

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR et al.

Plos One, 2020

32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E et al.

Scientific Reports, 2019

31882575 (PubMed )
Supplement: 41598_2019_55515_MOESM1_ESM.pdf

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

[New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].

Ruiz-Botero F et al.

Revista Chilena De Pediatria, 2017

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Petereit DG et al.

Frontiers in Oncology, 2013

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Broeks A et al.

Breast Cancer Research and Treatment, 2008

ATM variants and cancer risk in breast cancer patients from Southern Finland.

Tommiska J et al.

Bmc Cancer, 2006

Molecular variants of the ATM gene in Hodgkin's disease in children.

Liberzon E et al.

British Journal of Cancer, 2004

Contributions of ATM mutations to familial breast and ovarian cancer.

Thorstenson YR et al.

Cancer Research, 2003

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

ATM mutations are rare in familial chronic lymphocytic leukemia.

Yuille MR et al.

Blood, 2002

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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."