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

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• 作者：Jon Zugazagoitia (1) (9)
  Pedro Pérez-Segura (1) (2) (3)
  Arancha Manzano (1)
  Ignacio Blanco (4)
  Ana Vega (5)
  Ana Custodio (6)
  Alex Teulé (4)
  Laura Fachal (5)
  Beatriz Martínez (6)
  Rogelio González-Sarmiento (7)
  Juan Jesús Cruz-Hernández (7)
  Isabel Chirivella (8)
  Vicente Garcés (8)
  Pilar Garre (3)
  Atocha Romero (3)
  Trinidad Caldés (3)
  Eduardo Díaz-Rubio (1) (2) (3)
  Miguel de la Hoya (3)
  
• 关键词：BRCA1 ; BRCA2 ; TNBC ; Family structure ; BRCAPRO ; Genetic counseling ; Sporadic breast cancer
• 刊名：Breast Cancer Research and Treatment
• 出版年：2014
• 出版时间：November 2014
• 年：2014
• 卷：148
• 期：2
• 页码：415-421
• 全文大小：207 KB
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  5. Toh GT, Kang P, Lee SSW, Toh GT, Kang P, Lee SS, Lee DS, Lee SY, Selamat S, Mohd Taib NA, Yoon SY, Yip CH, Teo SH et al (2008) BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PLoS One 3:e2024 CrossRef
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• 作者单位：Jon Zugazagoitia (1) (9)
  Pedro Pérez-Segura (1) (2) (3)
  Arancha Manzano (1)
  Ignacio Blanco (4)
  Ana Vega (5)
  Ana Custodio (6)
  Alex Teulé (4)
  Laura Fachal (5)
  Beatriz Martínez (6)
  Rogelio González-Sarmiento (7)
  Juan Jesús Cruz-Hernández (7)
  Isabel Chirivella (8)
  Vicente Garcés (8)
  Pilar Garre (3)
  Atocha Romero (3)
  Trinidad Caldés (3)
  Eduardo Díaz-Rubio (1) (2) (3)
  Miguel de la Hoya (3)
  
  1. Genetic Counseling Unit, Department of Clinical Oncology, Hospital Clínico San Carlos, Madrid, Spain
  9. Department of Medical Oncology, Instituto de Investigación i+12, Hospital 12 de Octubre, Madrid, Spain
  2. Department of Medicine, Medical School, Universidad Complutense, Madrid, Spain
  3. Molecular Oncology Laboratory, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Martín Lagos s/n, 28040, Madrid, Spain
  4. Genetic Counseling Unit, Hereditary Cancer Program, Instituto Catalán de Oncología (ICO), Barcelona, Spain
  5. Genomic Medicine Group, “Fundación Pública Galega de Medicina Xenómica-SERGAS- CIBERER, IDIS, Santiago de Compostela, Spain
  6. Genetic Counseling Unit, Department of Medical Oncology, Hospital Universitario La Paz, Madrid, Spain
  7. IBMCC, IBSAL and Molecular Medicine Unit, Department of Medicine, Universidad de Salamanca-CSIC-SACYL, Salamanca, Spain
  8. Genetic Counseling Unit, Department of Medical Oncology, Hospital Clínico de Valencia, Valencia, Spain
  
• ISSN：1573-7217

文摘

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 (?5?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 1.38-3.89, 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 (?5?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.