Oncogenetics Group

Molecular study of the genetic predisposition to hereditary breast/ovarian cancer.
Identification and characterization of mutations and molecular alterations of genes of genetic predisposition to familiar breast/ovarian cancer of (BRCA1 and BRCA2, TP53, among others).
Identification of new genes for predisposition to familiar breast/ovarian cancer.
Analysis of genetic modifiers of risk in BRCA1/BRCA2 breast/ovarian cancer families.
Study of DNA repair capacity of cells with mutations in BRCA1 or BRCA2 genes.

Analysis of variants with unknown biological significance and changes in untranslated regions in BRCA1 /BRCA2 genes.
Identify and characterize germ line sequence variants en the BRCA1, BRCA2 and TP53 genes in breast cancer families.

Team

Principal Investigator

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