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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-02

AUTHORS

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

ABSTRACT

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; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. RESULTS: Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. CONCLUSION: ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility. More... »

PAGES

597-604

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-016-4058-7

DOI

http://dx.doi.org/10.1007/s10549-016-4058-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020311475

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27913932


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10549-016-4058-7'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10549-016-4058-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10549-016-4058-7'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10549-016-4058-7'


 

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