Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D2959fs
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ATM

NM_000051.4:p.D2959fs

Associated Papers

Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized Therapeutics.

Madeddu C et al.

International Journal of Molecular Sciences, 2025

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.

Sokolenko AP et al.

Breast Cancer Research and Treatment, 2024

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

Pérez-Ibave DC et al.

Genes, 2023

36833268 (PubMed )
Supplement: genes-14-00341-s001.zip › Table_S1.xlsx › Hoja1

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Bowling KM et al.

Genome Medicine, 2022

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
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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."