Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2R
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ATM

NM_000051.4:p.S2R

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

Bueno-Martínez E et al.

The Journal of Pathology, 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.

Moslemi M et al.

Bmc Cancer, 2021

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Asadollahi R et al.

Molecular Genetics & Genomic Medicine, 2020

Late-onset ataxia telangiectasia.

Newrick L et al.

Neurology. Clinical Practice, 2014

[Ataxia-telangiectasia mutated gene and breast cancer susceptibility].

Zhang N et al.

Sheng Wu Gong Cheng Xue Bao = Chinese Journal of Biotechnology, 2010

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

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

Tommiska J et al.

Bmc Cancer, 2006

ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy.

Andreassen CN et al.

International Journal of Radiation Oncology, Biology, Physics, 2006

The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants.

Hall J

Cancer Letters, 2005

Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk.

Lee KM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

Gutiérrez-Enríquez S et al.

Genes, Chromosomes & Cancer, 2004

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

Feng J et al.

Cancer Genetics and Cytogenetics, 2003

Genetic studies of the lac repressor. XIII. Extensive amino acid replacements generated by the use of natural and synthetic nonsense suppressors.

Kleina LG et al.

Journal of Molecular Biology, 1990

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