176P - Famosa: Evaluation of a multigene panel in patients with suspected HBOC

Date 10 October 2016
Event ESMO 2016 Congress
Session Poster display
Topics Breast Cancer
Presenter Encarna Adrover
Citation Annals of Oncology (2016) 27 (6): 43-67. 10.1093/annonc/mdw364
Authors E. Adrover1, I. Esteban2, G. Llort3, S. Servitja4, S. Martinez Peralta5, I. Garau6, J.M. Cano7, R. Serrano8, M.J. Juan Fita9, A. Casas10, B. Graña11, A. Teulé12, A. Marquez13, J.E. Ales Martínez14, A. Antón15, J. Brunet16, F. Balaguer17, S. Gonzalez18, J. Balmaña2, C. Alonso19
  • 1Oncology Department, Complejo Hospitalario Universitario de Albacete, 02006 - Albacete/ES
  • 2Oncology Department, Vall d`Hebron University Hospital Institut d'Oncologia, Barcelona/ES
  • 3Oncology Department, Hospital de Sabadell Corporacis Parc Tauli, Sabadell/ES
  • 4Oncology Department, University Hospital del Mar, Barcelona/ES
  • 5Oncology Department, Hospital de Mataro Consorcio Sanitario del Maresme, Mataro/ES
  • 6Oncology Department, Hospital Son Llatzer, Palma de Mallorca/ES
  • 7Oncology Department, Hospital General Ciudad Real, Ciudad Real/ES
  • 8Oncology Department, University Hospital Reina Sofia, Cordoba/ES
  • 9Oncology Department, Fundación Instituto Valenciano de Oncología, Valencia/ES
  • 10Oncology Department, Hospital Universitario Virgen del Rocio, Sevilla/ES
  • 11Oncology Department, Hospital Abente y Lago, A Coruna/ES
  • 12Oncology Department, Institut Catala de Oncologia, L'Hospitalet de Llobregat, Barcelona/ES
  • 13Oncology Department, Hospital Universitario Virgen de la Victoria, Malaga/ES
  • 14Oncology Department, Hospital Nuestra Señora de Sonsoles, Ávila/ES
  • 15Oncology Department, Hospital Miguel Servet, Zaragoza/ES
  • 16Oncology Department, Catalan Institute of Oncology (ICO)-Hospital Universitari Josep Trueta, Girona/ES
  • 17Gastroenterology, Hospital Clinic y Provincial de Barcelona, Barcelona/ES
  • 18Oncology Department, Hospital San Pedro de Alcántara, Cáceres/ES
  • 19Oncology Department, Hospital Universitario de La Princesa, Madrid/ES



Objectives: Characterize 1) the frequency of mutations in patients with clinical criteria for HBOC using a 25-gene panel in a Spanish population (FAMOSA study). 2) The psychological impact of these tests and patient's counseling preferences.


Patients with breast or ovarian cancer who met the NCCN criteria for genetic testing with a) prior testing for BRCA genes with NO mutation identified; or b) recently diagnosed (


From November 14 to February 15, 210 patients were included in the FAMOSA study (109 HBOC). 61 (56%) patients were previously tested for BRCA1/2 gene mutations with conventional techniques; median age: 44y (22-77); gender: 3 males / 106 females; cancer types: breast 95 (87%); ovary 14 (13%). Overall 22 pathogenic variants were identified in 21 patients (19,3%): 10 BRCA1, 2 BRCA2, 2 PALB2, 3 MUYTH, 1 CDKN2A; 2 ATM, 1 BRAD1, 1 BRIP1. One patient had an unexpected mutation in CDKN2A gene (gluteus sarcoma age 20; bilateral breast ca; ages 45 and 50; father lung ca, age 70; brother melanoma, age 35). Three patients had a significant mutation of a recessive condition in MUYTH. Of 61 patients previously tested negative for HBOC, 1 had a pathogenic variant in BRCA1 and 17/ 19 patients with VUS were classified negative in BRCA genes with MyRisk.Patients are willing to be disclosed all available information from panel testing. Differences were observed among type of results at short and mid-term. Cancer worry was higher in moderate-penetrance carriers than high penetrance carriers. Longer follow up is ongoing.


Panel testing in patients with HBOC yielded a 19,3% mutation rate, increasing the yield of genetic mutations beyond BRCA. Patients are willing to be disclosed all available information from panel testing.

Clinical trial identification

Legal entity responsible for the study

Myriad Genetics Spain


Myriad Genetics Spain


All authors have declared no conflicts of interest.