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Published in: Breast Cancer Research and Treatment 2/2014

01-11-2014 | Epidemiology

Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

Authors: Jon Zugazagoitia, Pedro Pérez-Segura, Arancha Manzano, Ignacio Blanco, Ana Vega, Ana Custodio, Alex Teulé, Laura Fachal, Beatriz Martínez, Rogelio González-Sarmiento, Juan Jesús Cruz-Hernández, Isabel Chirivella, Vicente Garcés, Pilar Garre, Atocha Romero, Trinidad Caldés, Eduardo Díaz-Rubio, Miguel de la Hoya

Published in: Breast Cancer Research and Treatment | Issue 2/2014

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Abstract

Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic breast cancer patients. Limited family structure has been proposed as a predictor of BRCA mutation status in this group of patients. An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-negative breast cancer (TNBC). Here, we analyze the feasibility of using limited family structure and TNBC as predictors of BRCA mutation status in early-onset breast cancer patients attending genetic counseling units. We have conducted the study in a cohort of sporadic early-onset (≤35 years) breast cancer patients (N = 341) previously selected for BRCA genetic testing in Academic Hereditary Cancer Clinics from Spain. A retrospective review of medical records available at the time of risk assessment allowed us classifying patients according to family structure and TNBC. In addition, BRCAPRO score was calculated for all patients. Association between categorical variables was investigated using the Fisher’s exact test. Binary Logistic Regression Analysis was used for multivariate analysis. Limited family structure (OR 3.61, p = 0.013) and TNBC (OR 3.14, p = 0.013) were independent predictors of BRCA mutation status. Mutation prevalence in the subgroup of patients with at least one positive predictor was 14 %, whereas it dropped to 3 % in non-TNBCs with adequate family history (OR 5.31, 95 % CI 1.38–23.89, p = 0.006). BRCAPRO correctly discerned between limited and adequate family structures. Limited family structure and TNBC are feasible predictors of BRCA mutation status in sporadic early-onset (≤35 years) breast cancer patients attending genetic counseling units. The low prevalence of mutations observed in non-TNBCs with adequate family structure suggests that this subgroup of patients might be excluded from genetic testing.
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Metadata
Title
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers
Authors
Jon Zugazagoitia
Pedro Pérez-Segura
Arancha Manzano
Ignacio Blanco
Ana Vega
Ana Custodio
Alex Teulé
Laura Fachal
Beatriz Martínez
Rogelio González-Sarmiento
Juan Jesús Cruz-Hernández
Isabel Chirivella
Vicente Garcés
Pilar Garre
Atocha Romero
Trinidad Caldés
Eduardo Díaz-Rubio
Miguel de la Hoya
Publication date
01-11-2014
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 2/2014
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-014-3167-4

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