Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.W488*
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ATM

NM_000051.4:p.W488*

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

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

Pembrolizumab Monotherapy for Early-Stage Triple-Negative Breast Cancer in a Patient With Lynch Syndrome.

Gowda S et al.

Jco Precision Oncology, 2025

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8

Anthracycline-related cardiotoxicity in patients with breast cancer harboring mutational signature of homologous recombination deficiency (HRD).

Incorvaia L et al.

Esmo Open, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.

Napolitano S et al.

Jama Oncology, 2023

37200022 (PubMed )
Supplement: jamaoncol-e230655-s003.xlsx › eTable4

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review.

Shao L et al.

Frontiers in Neurology, 2023

Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.

Nunziato M et al.

Frontiers in Medicine, 2022

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

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_1A

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y et al.

Neuromolecular Medicine, 2013

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S et al.

Annals of Human Genetics, 2008

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Cavalieri S et al.

Human Mutation, 2006

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

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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."