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Article

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

Clinical genetics - 1 May 2008

Brunet J, Gutiérrez-Enríquez S, Torres A, Bérez V, Sanjosé S, Galceran J, Izquierdo A, Menéndez J A, Gumà J, Borràs J

Abstract excerpt

Heterozygous carriers of ATM (ataxia telangiectasia mutated gene) mutations have increased risk of breast cancer (BC). We have estimated the prevalence of mutations in the ATM gene among Spanish patients with early-onset BC. Forty-three patients diagnosed with BC before the age of 46 years, and n...

Topics

Adult
Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Cell Cycle Proteins
DNA-Binding Proteins
Female
Follow-Up Studies
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Protein Serine-Threonine Kinases

Tumor Suppressor Proteins

Source

Identifiers

PMID: 18384426
DOI: 10.1111/j.1399-0004.2008.00987.x

Genes

ATM
BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-18384426-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.PMID 18384426Read ↗

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