Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A1931A
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ATM

NM_000051.4:p.A1931A

Associated Papers

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

PIK3CA mutations associated with a poor postoperative prognosis in patients with pulmonary pleomorphic carcinoma: a retrospective cohort study.

Kojima K et al.

Bmc Cancer, 2022

36243681 (PubMed )
Supplement: 12885_2022_10176_MOESM1_ESM.xlsx › Sheet1

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Richter A et al.

Cells, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___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

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

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

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

TIAM1 variants improve clinical outcome in neuroblastoma.

Sanmartín E et al.

Oncotarget, 2017

28423360 (PubMed )
Supplement: oncotarget-08-45286-s004.xlsx › Sheet1

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

[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

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

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

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

Birrell GW et al.

Human Mutation, 2005

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G et al.

American Journal of Medical Genetics. Part A, 2004

ATM gene alterations in childhood acute lymphoblastic leukemias.

Gumy Pause F et al.

Human Mutation, 2003

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

Teraoka SN et al.

Cancer, 2001

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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."