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Journal of Genetic Counseling

, Volume 27, Issue 4, pp 854–862 | Cite as

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

  • Miriam Lobo
  • Sara López-Tarruella
  • Soledad Luque
  • Santiago Lizarraga
  • Carmen Flores-Sánchez
  • Oscar Bueno
  • Jesús Solera
  • Yolanda Jerez
  • Ricardo González del Val
  • María Isabel Palomero
  • María Cebollero
  • Isabel Echavarría
  • Gabriela Torres
  • Miguel Martín
  • Iván Márquez-Rodas
Original Research

Abstract

The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p < 0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p = 0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p < 0.001) and referral rate (26.3 vs. 52%, p < 0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p = 0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.

Keywords

Hereditary breast cancer Genetic counseling Multidisciplinary approach BRCA1 BRCA2 

Notes

Compliance with Ethical Standards

Conflict of Interest

Miriam Lobo, Sara López-Tarruella, Soledad Luque, Santiago Lizarraga, Carmen Flores- Sánchez, Oscar Bueno, Jesús Solera, Yolanda Jerez, Ricardo González del Val, María Isabel Palomero, María Cebollero, Isabel Echavarría, Gabriela Torres, Miguel Martín, and Iván Márquez-Rodas declare that they have no conflict of interest.

Human Studies and Informed Consent

‘All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required.’

‘Informed consent was obtained from all individual participants included in the study before genetic test was performed.’

This work was approved after revision by our investigation ethics board committee (CEIC area 1) in June 2014.

Animal Studies

‘This article does not contain any studies with animals performed by any of the authors.’

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Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Miriam Lobo
    • 1
  • Sara López-Tarruella
    • 1
  • Soledad Luque
    • 2
  • Santiago Lizarraga
    • 2
  • Carmen Flores-Sánchez
    • 1
  • Oscar Bueno
    • 3
  • Jesús Solera
    • 4
  • Yolanda Jerez
    • 1
  • Ricardo González del Val
    • 1
  • María Isabel Palomero
    • 1
  • María Cebollero
    • 5
  • Isabel Echavarría
    • 1
  • Gabriela Torres
    • 1
  • Miguel Martín
    • 1
  • Iván Márquez-Rodas
    • 1
  1. 1.Servicio de Oncología Médica, Instituto de Investigación Sanitaria Gregorio MarañónUniversidad ComplutenseMadridSpain
  2. 2.Servicio de Ginecología, Instituto de Investigación Sanitaria Gregorio MarañónUniversidad ComplutenseMadridSpain
  3. 3.Servicio de Radiodiagnóstico, Instituto de Investigación Sanitaria Gregorio MarañónUniversidad ComplutenseMadridSpain
  4. 4.Instituto de Genética Molecular, Hospital La PazUniversidad AutónomaMadridSpain
  5. 5.Servicio de Anatomía Patológica, Instituto de Investigación Sanitaria Gregorio MarañónUniversidad ComplutenseMadridSpain

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