Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit
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.
KeywordsHereditary breast cancer Genetic counseling Multidisciplinary approach BRCA1 BRCA2
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.
‘This article does not contain any studies with animals performed by any of the authors.’
- Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130.CrossRefPubMedPubMedCentralGoogle Scholar
- Heemskerk-Gerritsen, B. A., Rookus, M. A., Aalfs, C. M., Ausems, M. G., Collée, J. M., Jansen, L., et al. (2015). Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. International Journal of Cancer, 136(3), 668–677.PubMedGoogle Scholar
- Márquez-Rodas, I., Lopez-Trabada, D., Ruperez Blanco, A. B., Custodio Cabello, S., Peligros, Gomez, M. I., Orera Clemente, M., et al. (2012). Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study. Oncology, 82(1), 30–34.CrossRefPubMedGoogle Scholar
- Márquez-Rodas, I., López-Tarruella, S., Jerez, Y., Cavanagh, M., Custodio, S., López-Trabada, D., et al. (2014). Evaluation of a heredofamilial cancer unit in increasing family history collection and genetic counseling referrals among Spanish oncologists at a university hospital. Journal of Genetic Counseling, 23(1), 108–113.CrossRefPubMedGoogle Scholar
- National Comprehensive Cancer Network (NCCN). (2017). The NCCN clinical practice guidelines in oncology TM 2010. Genetic/familial high risk assessment: breast and ovarian v2.2017. Available in: www.nccn.com.
- Programa de cáncer familiar. (2005). Programa integral de detección y asesoramiento de cáncer familiar en la Comunidad de Madrid. Available in: www.madrid.org.
- Riley, B. D., Culver, J. O., Skrzynia, C., Senter, L. A., Peters, J. A., Costalas, J. W., et al. (2012). Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 21, 151–161.CrossRefPubMedGoogle Scholar
- Tung, N., Lin, N. U., Kidd, J., Allen, B. A., Singh, N., Wenstrup, R. J., et al. (2016b). Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. Journal of Clinical Oncology, 34(13), 1460–1468.CrossRefPubMedPubMedCentralGoogle Scholar
- Tutt, A., Robson, M., Garber, J. E., Domchek, S. M., Audeh, M. W., Weitzel, J. N., et al. (2010). Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet (London, England), 376(9737), 235–244.CrossRefGoogle Scholar
- van Sprundel, T. C., Schmidt, M. K., Rookus, M. A., Brohet, R., van Asperen, C. J., Rutgers, E. J., et al. (2005). Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. British Journal of Cancer, 93(3), 287–292.CrossRefPubMedPubMedCentralGoogle Scholar
- von Minckwitz, G., Hahnen, E., Fasching, P. A., Hauke, J., Schneeweiss, A., Salat, C., et al. (2014). Pathological complete response (pCR) rates after carboplatin-containing neoadjuvant chemotherapy in patients with germline BRCA (gBRCA) mutation and triple-negative breast cancer (TNBC): results from GeparSixto. Journal of Clinical Oncology, 32, 5s (suppl; abstr 1005).Google Scholar
- Weitzel, J. N., Blazer, K. R., MacDonald, D. J., Culver, J. O., & Offit, K. (2011). Genetics, genomics, and cancer risk assessment. CA: a Cancer Journal for Clinicians, 61(5), 327–359.Google Scholar
- Wood, M. E., Kadlubek, P., Pham, T. H., Wollins, D. S., Lu, K. H., Weitzel, J. N., et al. (2014). Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. Journal of Clinical Oncology, 32, 824–882.CrossRefPubMedPubMedCentralGoogle Scholar