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High Risk and Cancer Prevention Group

Strategic Goals

  1. Development of the clinical and molecular tools to identify people with suspected Lynch syndrome or hereditary breast and ovarian cancer syndrome associated with BRCA.
  2. Analysis of the medical and psychosocial impact of the genetic study of hereditary cancer (BRCA and Lynch syndrome).
  3. Development of specific therapeutic strategies for tumors associated with hereditary genetic alterations.
  4. Identification of new genes causing predisposition to hereditary breast cancer.
  5. Evaluation of the risk of cancer of adult patients with Fanconi anemia and survivors of other childhood syndromes with genetic predisposition to cancer.

Current objectives

  • Development of  specific new therapies for patients with hereditary cancer 
  • Analysis of the long-term psychosocial impact of genetic studies in hereditary syndromes

Team

Judith Balmaña

Principal Investigator

Staff scientist PhD

  • Nina Bosch

Clinical Nurse Specialist

  • Neus Gadea

Graduate Students

  • Daniel Fortuny
  • Irene Valenzuela

Publications

  • Sanz J, Ramón Y Cajal T, Torres A, Darder E, Gadea N, Velasco A, Fortuny D, López C, Fisas D, Brunet J, Alonso MC, Balmaña J. Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam. Cancer 2010 Sep; 9(3): 297-304
  • Diez O, Gutiérrez-Enríquez S, Balmaña J. Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing. Fam. Cancer 2010 Jun; 9(2): 187-91
  • Diez O, Gutiérrez-Enríquez S, Mediano C, Masas M, Saura C, Gadea N, Balmaña J. A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer. Breast Cancer Res. Treat. 2010 May; 121(1): 221-5
  • Quispe I, Balmaña J. [Predictive models for identification of germline mutation carriers in Lynch syndrome]. Med Clin (Barc) 2010 Apr; 134(9): 412-7
  • Milne RL, Osorio A, Ramón Y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Duran M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. Treat. 2010 Jan; 119(1): 221-32

All publications