Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-03

AUTHORS

R. Andrés, I. Pajares, J. Balmaña, G. Llort, T. Ramón y Cajal, I. Chirivella, E. Aguirre, L. Robles, E. Lastra, P. Pérez-Segura, N. Bosch, C. Yagüe, E. Lerma, J. Godino, M. D. Miramar, M. Moros, P. Astier, B. Saez, M. J. Vidal, A. Arcusa, S. Ramón y Cajal, M. T. Calvo, A. Tres

ABSTRACT

BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1. More... »

PAGES

280-284

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12094-013-1070-9

DOI

http://dx.doi.org/10.1007/s12094-013-1070-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046650078

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23982851


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