Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G2695S
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ATM

NM_000051.4:p.G2695S

Associated Papers

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3

Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.

Viart NM et al.

Breast Cancer Research : Bcr, 2025

Impact of cytotoxic therapy on clonal hematopoiesis and myeloid neoplasms in breast cancer patients.

Kim H et al.

Medicine, 2024

39560556 (PubMed )
Supplement: medi-103-e40540-s001.xlsx › Table_S1

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

Molecular basis of human ATM kinase inhibition.

Stakyte K et al.

Nature Structural & Molecular Biology, 2021

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Magraner-Pardo L et al.

Scientific Reports, 2021

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A et al.

Human Mutation, 2019

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered

MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Cai W et al.

Bmc Genomics, 2018

30075702 (PubMed )
Supplement: 12864_2018_4958_MOESM5_ESM.xlsx › Supplementary_Figure_4

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL et al.

Breast Cancer Research : Bcr, 2018

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.

Riaz N et al.

Nature Communications, 2017

29021619 (PubMed )
Supplement: 41467_2017_921_MOESM6_ESM.xlsx › Sheet1

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Lai Z et al.

Nucleic Acids Research, 2016

27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1B

Adult classical glioblastoma with a BRAF V600E mutation.

Takahashi Y et al.

World Journal of Surgical Oncology, 2015

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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."