Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y1252Fs
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ATM

NM_000051.4:p.Y1252Fs

Associated Papers

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

Viart NM et al.

Breast Cancer Research : Bcr, 2025

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_1

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

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

Renault AL et al.

Breast Cancer Research : Bcr, 2018

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Bubien V et al.

Genes, Chromosomes & Cancer, 2017

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Tavera-Tapia A et al.

Breast Cancer Research and Treatment, 2017

Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells.

Bhatt N et al.

Stem Cell Research, 2016

Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).

Bhatt N et al.

Stem Cell Research, 2016

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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."