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Poster display session

2943 - Prevalence and baseline clinico-pathological associations of germline deleterious mutations in DNA repair genes (gmDDR) in a metastatic castration resistant prostate cancer (mCRPC) prospective spanish cohort (PROREPAIR-B study).


10 Sep 2017


Poster display session


Nuria Romero Laorden


Annals of Oncology (2017) 28 (suppl_5): v269-v294. 10.1093/annonc/mdx370


N. Romero Laorden1, R. Lozano Mejorada2, J.M. Piulats Rodriguez3, E. Vallespín4, A. Montesa5, D. Lorente Estelles6, J.C. Villaguzmán7, G. Grau5, A. Rodriguez-Vida8, K. Ibañez4, E. Gonzalez-Billalabeitia9, L. Magraner1, J. Garde10, S. Hernando Polo11, J. Arranz Arija12, R. Villatoro13, B. Pérez Valderrama14, P. Lapunzina4, E. Castro Marcos1, D. Olmos Hidalgo1

Author affiliations

  • 1 Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Centre, 28029 - Madrid/ES
  • 2 Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Centre, Madrid/ES
  • 3 Medical Oncology, Insitut Catalán d'Oncología, 8907 - Barcelona/ES
  • 4 Medical Genetics And Molecular Institute (ingemm), Instituto de Investigación Hospital Universitario La Paz, 28046 - Madrid/ES
  • 5 Cnio-ibima Genitourinary Research Unit, Hospitales Universitarios Virgen de la Victoria y Regional de Málaga, Málaga/ES
  • 6 Medical Oncology, Hospital Universitari i Politècnic La Fe, Valencia/ES
  • 7 Medical Oncology, Hospital General Universitario de Ciudad Real, Ciudad Real/ES
  • 8 Medical Oncology, University Hospital del Mar, 8003 - Barcelona/ES
  • 9 Medical Oncology Department, Hospital General Universitario Morales Messeguer, Murcia/ES
  • 10 Medical Oncology Department, Hospital Universitario Arnau de Vilanova, Valencia/ES
  • 11 Medical Oncology Department, HUFA Hospital Universitario Fundacion Alcorcon, 28922 - Alcorcon/ES
  • 12 Medical Oncology, Hospital General Universitario Gregorio Marañon, 28007 - Madrid/ES
  • 13 Medical Oncology, Hospital Costa del Sol, Málaga/ES
  • 14 Medical Oncology, HH Virgen del Rocío, Sevilla/ES


Abstract 2943


DNA repair has been reported as a frequent altered pathway in mCRPC. The prevalence of gmDDR has been recently estimated in a retrospective pooled analysis of 7 UK-US institutions as 11.8% in mCRPC (Pritchard, NEJM 2016). However, geographic differences are expected and its association with the phenotype of mCPRC in other populations remains unknown.


PROREPAIR-B study is a prospective multicenter observational cohort study. Blood samples and clinical data have been collected prospectively in 38 centres across Spain. Germline DNA was extracted from EDTA blood samples using Flexigene®. Sequencing libraries were generated from 250ng of gDNA using a custom panel of 124 genes related to DNA repair and familial cancer, with the NimbleGen SeqCap XL Target Enrichment (Roche®) tecnhology. Validation of pathogenic mutations by Sanger, MLPA or additional NGS has been performed only for 24 genes included in the BROCA panel. Preliminary statistical analyses have been conducted comparing clinico-pathological characteristics at diagnosis and at mCRPC between carriers and non-carriers.


38 validated gmDDR were detected in 419 patients (9.1%), with 5 additional cases undergoing further validation studies. BRCA2 was the most frequently mutated gene (n = 14) followed by ATM (n = 8), BRCA1 (n = 4) and CHEK2 (n = 4). Characteristics at prostate cancer diagnosis (dx): 99% caucasian; median age 66y (41-92); Gleason  0.05).


This is the first study that reports the prevalence of gmDDR in a cohort of mediterranean mCRPC patients.

Clinical trial identification


Legal entity responsible for the study

Spanish National Cancer Research Centre (CNIO)


Spanish National Cancer Research Centre (CNIO)


All authors have declared no conflicts of interest.

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