Risk Prediction Tools Available for Germline BRCA1/2 Mutations Underperform in Prostate Cancer Patients

Early identification of germline BRCA1/2 mutations may be relevant for the management of patients with prostate cancer (PC) and to prevent future breast and ovarian cancers in their relatives. Several prediction tools have been developed to estimate the likelihood of a germline BRCA1/2 mutation and are widely used to optimize screening in breast and ovarian cancer patients.

We aimed to elucidate the proportion of PC patients with known BRCA1/2 mutations who would have qualified for testing using two risk calculation models (BRCAPRO and the Manchester scoring system [MSS]). We analyzed 106 families with known BRCA1/BRCA2 mutations, including 23 with PC cases. Only 30% and 48% of PC patients who were known BRCA1/BRCA2 mutations carriers would have qualified for testing using BRCAPRO and MSS, respectively. A median of two breast and/or ovarian cancer cases per family had occurred between the first PC identified in a carrier and the cancer case leading to germline testing. PATIENT SUMMARY: We tested two models developed to predict the probability of inherited BRCA1/BRCA2 mutations and found that these tools underperform in men with prostate cancer and should not be used to optimize testing in this population.

European urology oncology. 2019 Jul 12 [Epub ahead of print]

Lucía Oliva, Rebeca Lozano, Casilda Llácer, Isabel Aragón, Bella I Pajares, María Isabel Sáez, Bernardo Herrera-Imbroda, Alvaro Montesa, David Hernández, Rosa Villatoro, Ana Otero, Raquel Correa, Gala Grau, Pablo Peinado, María Isabel Pacheco, Emilio García-Galisteo, Antonio Rueda, Francisco Javier Machuca, Emilio Alba, Antonia Márquez-Aragonés, David Olmos, Elena Castro

UGCI Oncología Médica, Hospitales Universitarios Virgen de la Victoria y Regional de Málaga, Málaga, Spain; CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain., CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain; Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Center, Madrid, Spain., UGCI Oncología Médica, Hospitales Universitarios Virgen de la Victoria y Regional de Málaga, Málaga, Spain., CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain; Urology Department, Hospital Regional Universitario de Málaga, Málaga, Spain., CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain; Radiation Oncology Department, Hospital Regional Universitario Virgen de la Victoria, Málaga, Spain., CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain; Medical Oncology Department, Hospital Universitario Costa del Sol, Marbella, Spain., Urology Department, Hospital Regional Universitario de Málaga, Málaga, Spain., Urology Department, Hospital Universitario Virgen de la Victoria, Málaga, Spain., UGCI Oncología Médica, Hospitales Universitarios Virgen de la Victoria y Regional de Málaga, Málaga, Spain; CNIO-IBIMA Genitourinary Cancer Research Unit, Institute of Biomedical Research in Malaga, Málaga, Spain; Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Center, Madrid, Spain. Electronic address: .

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