496P - A multidisciplinary approach to heredofamilial cancer syndromes: Evaluation of the first four years of experience at a Spanish University Hospital

Date 28 September 2014
Event ESMO 2014
Session Poster Display session
Topics Hereditary Syndromes
Presenter Iván Márquez-Rodas
Citation Annals of Oncology (2014) 25 (suppl_4): iv165-iv166. 10.1093/annonc/mdu332
Authors I. Márquez-Rodas1, M. Sanz2, S. Luque3, I. Peligros4, C. Mata5, M. Die-Trill6, C. Flores Sanchez7, S. Lizarraga3, O. Bueno8, S. López-Tarruella1, A.J. Muñoz Martín1, C. Lopez Lopez1, P. Menchen9, J. Gomez Camarero9, J.A. Pajares9, J. Solera10, J.P. Justel11, J.A. Arranz Arija1, P. García Alfonso1, M. Martin Jimenez1
  • 1Medical Oncology, Instituto Investigación Sanitaria Hospital Gregorio Marañón, 28007 - Madrid/ES
  • 2Surgery, Hospital Gregorio Marañon, Madrid/ES
  • 3Gynaecology, Hospital Gregorio Marañon, Madrid/ES
  • 4Pathology, Hospital Gregorio Marañon, Madrid/ES
  • 5Pediatrics, Hospital Gregorio Marañon, Madrid/ES
  • 6Psycooncology, Hospital Gregorio Marañon, Madrid/ES
  • 7Oncology Nursery, Hospital Gregorio Marañon, Madrid/ES
  • 8Radiology, Hospital Gregorio Marañon, Madrid/ES
  • 9Gastroenterology, Instituto Investigación Sanitaria Hospital Gregorio Marañón, 28007 - Madrid/ES
  • 10Molecular Genetics, Hospital Universitario La Paz, Madrid/ES
  • 11Atención Primaria, C.S ALDEBARÁN, Madrid/ES



Heredofamilial cancer syndromes (HCS) need a multidisciplinary approach, since: 1) different organs and systems can be affected; and 2) different risk-reducing strategies, involving several medical and surgical specialists, should be provided. With this in mind, we implemented in 2010 a multidisciplinary heredofamilial cancer unit (HFCU) in our hospital.


Retrospective analysis of the first 4 years the HFCÚs activity.


A total of 1070 patients, from 927 different families were attended. 761 (71%) patients fulfilled international criteria for HCS. Genetic test results (GTR) were available for 323 patients at the time of analysis, with 115 cases (35.6%) of pathological mutations (MUT) detected. New mutation detection rate (first time diagnosis in a family) was 22%.The distribution according to pathology is summarized in the table. In patients with pathogenic mutations, risk reducing surgery (RRS) and /or follow up were offered according to international guidelines and patients' preferences: 34.8% patients went to RRS, while 65.2% only went to follow up.

MUT / GTR (%)
Breast & ovarian 84/231 (36.3)
Lynch 14/36 (38.9)
Poliposis 6/16 (37.5)
Li Fraumeni 2/10 (20)
Melanoma/pancreas 1/8 (12.5)
Cowden 1/7 (14.3)
MEN 3/6 (50)
VHL 1/3 (33.3)
Diffuse gastric 1/3 (33.3)
NF1 1/2 (50)
Gorlin 1/1 (100)
TOTAL 115/323 (35.6)


The implementation of an HFCU has provided a multidisciplinary assistance to a wide number of patients at risk in its first four years of activity. Patients were well pre-selected, as revealed by the high new mutation detection rate. However, further analysis must be done in order to evaluate the real impact of these interventions, to improve the different steps and timing of the genetic counseling process, and to receive the input from patients and their families


All authors have declared no conflicts of interest.