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Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.

Cancer genetics - 1 Aug 2024

Ćuk Mario, Unal Busra, Hayes Connor P, Walker McKenzie, Bevanda Anđela, Antolović Viktorija, Ghazani Arezou A

Abstract excerpt

ATM gene is implicated in the development of breast cancer in the heterozygous state, and Ataxia-telangiectasia (A-T) in a homozygous or compound heterozygous state. Ataxia-telangiectasia (A-T) is a rare cerebellar ataxia syndrome presenting with progressive neurologic impairment, telangiectasia, and an increased risk of leukemia and lymphoma. Although the role of ATM, separately, in association with A-T and...

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PMID: 39067332
DOI: 10.1016/j.cancergen.2024.07.002

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ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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