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Article

ATM Variants and Breast Cancer Risk in North Macedonia: Focus on the Regionally Enriched p.(Leu2492Arg) Variant.

Balkan medical journal - 1 Sept 2026

Kostovska Ivana Maleva, Kiprijanovska Sanja, Noveski Predrag, Vujovikj Marija, Terzic Marija, Plaseska-Karanfilska Dijana

Abstract excerpt

Background: Germline pathogenic variants (PVs) in the ataxia-telangiectasia mutated (ATM) gene are established moderate-risk factors for breast cancer (BC), however, population-specific variant spectra and the clinical significance of many missense variants remain incompletely characterized. Aims: To evaluate the prevalence of ATM variants in a large cohort of patients with BC from North Macedonia and compare it...

Read the complete abstract on PubMed

Topics

Humans
Female
Breast Neoplasms
Ataxia Telangiectasia Mutated Proteins
Case-Control Studies
Retrospective Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Republic of North Macedonia

Middle Aged

Aged

Adult

Genetic Predisposition to Disease

Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 42057669
DOI: 10.4274/balkanmedj.galenos.2026.2026-1-289
PMCID: PMC13530683

Genes

ATM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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