Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C536Splc
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ATM

NM_000051.4:p.C536Splc

Associated Papers

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Renault AL et al.

Breast Cancer Research : Bcr, 2022

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.

Moslemi M et al.

Cancer Cell International, 2021

Family communication of genetic test results among women with inherited breast cancer genes.

Cragun D et al.

Journal of Genetic Counseling, 2021

From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.

Woodward ER et al.

Breast Care (basel, Switzerland), 2021

Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers.

Hall MJ et al.

Cancer Prevention Research (philadelphia, Pa.), 2021

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

Moslemi M et al.

Bmc Cancer, 2021

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.

Schröder S et al.

American Journal of Medical Genetics. Part A, 2020

Redundant meta-analyses are common in genetic epidemiology.

Sigurdson MK et al.

Journal of Clinical Epidemiology, 2020

ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry.

Pizzamiglio L et al.

Cells, 2020

Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Yang Z et al.

Breast Cancer Research and Treatment, 2019

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

Systematic Analysis of Splice-Site-Creating Mutations in Cancer.

Jayasinghe RG et al.

Cell Reports, 2018

29617666 (PubMed )
Supplement: NIHMS958979-supplement-6.pdf

Inherited Cancer in the Age of Next-Generation Sequencing.

Price KS et al.

Biological Research for Nursing, 2018

29325452 (PubMed )
Supplement: price_17070089_toSage_supplRefs__282_29.pdf

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL et al.

Scientific Reports, 2017

29127364 (PubMed )
Supplement: 41598_2017_15127_MOESM1_ESM.doc

ATM mutations for surgeons.

Mansfield SA et al.

Familial Cancer, 2017

Association between glutathione peroxidase-1 (GPX1) Rs1050450 polymorphisms and cancer risk.

Wang C et al.

International Journal of Clinical and Experimental Pathology, 2017

Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.

Zhao Y et al.

Oncotarget, 2016

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

van Os NJ et al.

Clinical Genetics, 2016

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

Slavin TP et al.

Frontiers in Oncology, 2015

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

Mauer CB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Tumour morphology predicts PALB2 germline mutation status.

Teo ZL et al.

British Journal of Cancer, 2013

Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

Byrd PJ et al.

British Journal of Cancer, 2012

A putative "hepitype" in the ATM gene associated with chronic lymphocytic leukemia risk.

Martín-Guerrero I et al.

Genes, Chromosomes & Cancer, 2011

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

Reiman A et al.

British Journal of Cancer, 2011

21792198 (PubMed )
Supplement: bjc2011266x1.doc

Lack of association between ATM C.1066-6T > G mutation and breast cancer risk: a meta-analysis of 8,831 cases and 4,957 controls.

Ding H et al.

Breast Cancer Research and Treatment, 2011

Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma.

Beránek M et al.

Acta Medica (hradec Kralove), 2011

Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility.

Bau DT et al.

The Laryngoscope, 2010

Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females.

Wang HC et al.

Anticancer Research, 2010

ATM polymorphisms and risk of lung cancer among never smokers.

Lo YL et al.

Lung Cancer (amsterdam, Netherlands), 2010

Low levels of ATM in breast cancer patients with clinical radiosensitivity.

Fang Z et al.

Genome Integrity, 2010

Association between CYP2E1 genetic polymorphisms and lung cancer risk: a meta-analysis.

Wang Y et al.

European Journal of Cancer (oxford, England : 1990), 2010

A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.

Bogdanova N et al.

Breast Cancer Research and Treatment, 2009

Antaxia-telangiectasia mutated gene polymorphisms and susceptibility to chromosomal damage among polycyclic aromatic hydrocarbons exposed workers.

Wang Y et al.

The Science of the Total Environment, 2009

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Mitui M et al.

Human Mutation, 2009

Hereditary breast cancer: from bench to bedside.

De Grève J et al.

Current Opinion in Oncology, 2008

Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

Austen B et al.

British Journal of Haematology, 2008

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

Contribution of mutations in ATM to breast cancer development in the Czech population.

Soukupova J et al.

Oncology Reports, 2008

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome.

Sijmons RH

Hereditary Cancer in Clinical Practice, 2008

Detection of ATM gene mutations in young lung cancer patients: a population-based control study.

Schneider J et al.

Archives of Medical Research, 2008

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

Tapia T et al.

Breast Cancer Research and Treatment, 2008

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

Broeks A et al.

Breast Cancer Research and Treatment, 2008

Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.

Ye C et al.

Breast Cancer Research and Treatment, 2007

The role of ATM in breast cancer development.

Prokopcova J et al.

Breast Cancer Research and Treatment, 2007

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

ATM gene mutations in former uranium miners of SDAG Wismut: a pilot study.

Schneider J et al.

Oncology Reports, 2007

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