Home > Research Team > Orland Díez
Current positions
- Head of the Oncogenetics Group
- Staff member of the Molecular Biology Laboratory at Vall d’Hebron University Hospital.
Academic Qualifications
- Degree in Biology from the University of Barcelona, 1982
- Specialist in Clinical Biochemistry (B.I.R.) from the Ministry of Health and Consumer Affairs, 1992
- Doctorate in Biology from the University of Barcelona, 1999
Areas of Research
- Identification and characterization of mutations and molecular alterations of genes causing genetic predisposition to familial breast and ovarian cancer (including BRCA1 and BRCA2).
- Identification of new genes causing predisposition to hereditary breast cancer.
- Identification of low-penetrance genes and genetic risk modifiers for breast and ovarian cancer.
- Study of the repair capacity of DNA in cells carrying a mutation in the BRCA1 or BRCA2 genes.
Prizes and Scholarships
- Accreditation in Human Genetics from the Spanish Association of Human Genetics, 2002
Most relevant scientific publications
- Balmaña J, Diez O, Rubio I, Castiglione M. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann. Oncol. 2010 May; 21 Suppl 5: v20-2
- 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
- Diez O, Gutiérrez-Enríquez S, Masas M, Tenés A, Yagüe C, Arcusa A, Llort G. Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family. Breast Cancer Res. Treat. 2010 Sep; 123(2): 587-90
- Balmaña J, Diez O, Castiglione M. BRCA in breast cancer: ESMO clinical recommendations. Ann. Oncol. 2009 May; 20 Suppl 4: 19-20
- Gutiérrez-Enríquez S, Coderch V, Masas M, Balmaña J, Diez O. The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts. Breast Cancer Res. Treat. 2009 Sep; 117(2): 461-5
- Diez O, Gutiérrez-Enríquez S. BRCA2 splice site mutations in an Italian breast/ovarian cancer family. Ann. Oncol. 2009 Jul; 20(7): 1285; author reply 1285-6
- Rosa-Rosa JM, Pita G, Urioste M, Llort G, Brunet J, Lázaro C, Blanco I, Ramón Y Cajal T, Diez O, de la Hoya M, Caldés T, Tejada MI, González-Neira A, Benítez J. Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci. Am. J. Hum. Genet. 2009 Feb; 84(2): 115-22
- Honrado E, Osorio A, Palacios J, Milne RL, Sánchez L, Diez O, Cazorla A, Syrjakoski K, Huntsman D, Heikkilä P, Lerma E, Kallioniemi A, Rivas C, Foulkes WD, Nevanlinna H, Benítez J. Immunohistochemical expression of DNA repair proteins in familial breast cancer differentiate BRCA2-associated tumors. J. Clin. Oncol. 2005 Oct; 23(30): 7503-11
