VHIO
High Risk and Cancer Prevention
Judith Balmaña
Staff Scientists
Estela Carrasco, Cristina Cruz, Irene Estaban
Clinical Nurse Specialist
Neus Gadea
SUMMARY
We develop novel targeted therapies for patients with hereditary breast cancer. During 2014, patients with advanced breast cancer and a BRCA mutation participated in several phase II or phase III trials with a specific DNA binding agent or a PARP inhibitor. In addition, thanks to a three year collaboration with VHIO’s Experimental Therapeutics and Cancer Genomics Groups we now have a large collection of BRCA-associated patient-derived xenografts implanted in athymic mice. These murine models recapitulate the clinical behaviour of the tumors and have been used to identify mechanisms of resistance to targeted therapies and test new combinatorial treatments at progression.
In the field of genetic epidemiology, we are mainly focused on identifying new genetic susceptibilities to hereditary breast cancer. We are collaborating with VHIO’s Oncogenetics Group on next generation sequencing studies with a panel of 98 cancer susceptibility genes in breast cancer families with no mutation in BRCA1or BRCA2. Analysis of the first 40 families has provided 4 genetic results with clinical utility. In hereditary colorectal cancer we are participating in a study of mutations in POLD1 and POLE in families with polyposis, or young onset colorectal cancer with microsatellite stability. Finally, we continue to participate in the international multi-center IMPACT study (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in BRCA1/2 mutation carriers and controls, MREC 05/MRE07/25, Chief Investigator: R. Eeles) to analyze the efficacy of early detection of prostate cancer in patients with a mutation in the BRCA1/2 genes
PUBLICATIONS
Balmaña J, Tung NM, Isakoff SJ, Graña B, Ryan PD, Saura C, Lowe ES, Frewer P, Winer E, Baselga J & Garber JE. Phase I trial of olaparib in combination with cisplatin for the treatment of patients with advanced breast, ovarian and other solid tumors. Ann Oncol. 2014 Aug; 25(8):1656-63. doi:
10.1093/annonc/mdu187. Epub 2014 May 14.
Kaufman B, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer S, Hubert A, Rosengarten O, Steiner M, Loman N, Bowen K, Fielding A and Domchek SM. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol. 2015 33: 244-250.
MAIN RESEARCH PROJECTS
View- BRCA-ASSOCIATED BREAST CANCER: GENETIC MECHANISMS OF RESISTANCE TO TARGETED THERAPIES AND ANALYSIS OF NEW TREATMENTS IN A PATIENT-DERIVED XENOGRAFT MODEL.
Reference: FIS- PI12/02606
Principal Investigator: Judith Balmaña - ANTITUMORAL ACTIVITY OF PM01183 IN A BRCA-BREAST CANCER PATIENT-DERIVED XENOGRAFT MODEL WITH PRIMARY OR ACQUIRED RESISTANCE TO PARP INHIBITORS.
Pharmamar
2014-2015 - ANTITUMORAL ACTIVITY OF BMN673 IN PATIENT-DERIVED XENOGRAFT MODELS FROM BRCA-MUTATED BREAST TUMORS WITH VARIABLE SENSITIVITY TO OLAPARIB. BIOMARIN PHARMACEUTICAL INC.
2014 - IDENTIFICACIÓN DE VARIANTES DEL ARNm DE BRCA QUE CODIFICAN PARA PROTEÍNAS CON CAPACIDAD FUNCIONAL, COMO POTENCIAL NUEVO MECANISMO DE RESISTENCIA A LOS INHIBIDORES DE PARP EN CÁNCER DE MAMA CON MUTACIÓN GERMINAL DE BRCA. SEOM – BUCKLER 0,0.
Principal Investigator: Cristina Cruz