Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)
Clin. transl. oncol. (Print)
; 16(3): 280-284, mar. 2014.
Artigo
em Inglês
| IBECS
| ID: ibc-127735
Biblioteca responsável:
ES1.1
Localização: BNCS
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 ANDMETHODS:
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 (AU)RESUMEN
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Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Mutação em Linhagem Germinativa
/
Genes BRCA1
Tipo de estudo:
Estudo observacional
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Fatores de risco
Limite:
Idoso
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Clin. transl. oncol. (Print)
Ano de publicação:
2014
Tipo de documento:
Artigo
Instituição/País de afiliação:
Aragon Health Science Institute/Spain
/
Centro de Salud San Pablo/Spain
/
Hopsital Clínico de Valencia/Spain
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Hopsital de la Santa Creu I Sant Pau/Spain
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Hospital Arnau de Vilanova/Spain
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Hospital Clínico Lozano Blesa/Spain
/
Hospital Clínico San Carlos/Spain
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Hospital General Yagüe/Spain
/
Hospital Universitario 12 de Octubre/Spain
/
Hospital Universitario Miguel Servet/Spain