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Article

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

Breast cancer research and treatment - 1 Feb 2017

Tavera-Tapia A, Pérez-Cabornero L, Macías J A, Ceballos M I, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart M D, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A

Abstract excerpt

PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT;...

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Source

Identifiers

PMID: 27913932
DOI: 10.1007/s10549-016-4058-7

Genes

ATM
BRCA1
BRCA2

Variants

Provenance

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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