Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V245V
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ATM

NM_000051.4:p.V245V

Associated Papers

Severe Radiation-Induced Brachial Plexopathy: A Case Report on Radiation Toxicity in a Patient With Invasive Ductal Carcinoma.

Waeldner K et al.

Cureus, 2024

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

Pediatric lymphoproliferative disorders associated with inborn errors of immunity.

Cheng J et al.

Clinical Immunology (orlando, Fla.), 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

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

Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

Alen BO et al.

Cancers, 2022

35884384 (PubMed )
Supplement: cancers-14-03323-s001.zip › SUPPLEMENTARY_MATERIAL.xlsx › S7

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 research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Bishop MR et al.

Plos One, 2019

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

ATM gene mutations in sporadic breast cancer patients from Brazil.

Mangone FR et al.

Springerplus, 2015

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

Petereit DG et al.

Frontiers in Oncology, 2013

Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.

Knappskog S et al.

Breast Cancer Research : Bcr, 2012

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

Beránek M et al.

Acta Medica (hradec Kralove), 2011

[Adjuvant irradiation in breast cancer patients with ATM gene heterozygous mutations: special focus on clinical efficacy/toxicity].

Chargari C et al.

Cancer Radiotherapie : Journal De La Societe Francaise De Radiotherapie Oncologique, 2009

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Nguyen-Dumont T et al.

Human Mutation, 2009

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Concannon P et al.

Cancer Research, 2008

Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.

Ho AY et al.

International Journal of Radiation Oncology, Biology, Physics, 2007

A genetically determined dose-volume histogram predicts for rectal bleeding among patients treated with prostate brachytherapy.

Cesaretti JA et al.

International Journal of Radiation Oncology, Biology, Physics, 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

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

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

Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.

Karaman MW et al.

Nucleic Acids Research, 2005

The genetics of familial lymphomas.

Siddiqui R et al.

Current Oncology Reports, 2004

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

Feng J et al.

Cancer Genetics and Cytogenetics, 2003

Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.

Mauget-Faÿsse M et al.

Investigative Ophthalmology & Visual Science, 2003

Contributions of ATM mutations to familial breast and ovarian cancer.

Thorstenson YR et al.

Cancer Research, 2003

ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.

Grønbaek K et al.

Blood, 2002

Mutation of the ATM gene is not involved in the pathogenesis of either follicle center lymphoma or its transformation to higher-grade lymphoma.

Lossos IS et al.

Leukemia & Lymphoma, 2002

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.

Sommer SS et al.

Cancer Genetics and Cytogenetics, 2002

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.

Dörk T et al.

Cancer Research, 2001

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K et al.

Human Mutation, 2000

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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."