Dr Milagros Balbín Felechosa
Milagros Balbín obtained her PhD in Biology at the Universidad de Oviedo. She began her current role as Head of the Molecular Oncology Laboratory at the Hospital Universitario Central de Asturias when the laboratory was opened in 2004. Since then, it has become the leading laboratory providing support for molecular diagnosis of cancer in the Asturian public health network.
This team’s research has focused on searching for markers to incorporate into the clinical laboratory, both through the group’s own projects and collaborations with other groups.
In her previous position as postdoctoral researcher on Dr López Otín’s team at the Universidad de Oviedo (1993-2004), her research focused on cancer, cloning mouse genes that are homologous to human metalloproteinases and creating animal models for the study of these proteinases. She has co-supervised three PhD theses.
|Al Kassam Martínez, Daniel||SESPA||Research/Clinical||R2|
|Álvarez Eguiluz, Ángel||Universidad de Oviedo||Research/Teaching||R1|
|Balbín Felechosa, Milagros||SESPA||Research/Clinical/Teaching||R3|
|Blay Albors, Pilar||SESPA||Research/Clinical/Teaching||R2|
|Sánchez Pitiot, Ana Gloria||Universidad de Oviedo||Research/Clinical||R1|
|Álvarez López, Carmen María||SESPA||Research/Clinical||No classification|
|Cubiella Granda, Angeles||SESPA||Research/Clinical||No classification|
|González Alvarado, María Marta||FINBA||Research||No classification|
|Martínez Paredes, Ana Ynés||SESPA||Research/Clinical||No classification|
|Romero Carou, Rosa||SESPA||Research/Clinical||No classification|
HUCA’s Molecular Oncology Laboratory was created in 2004 after the Instituto Universitario de Oncología de Asturias (IUOPA) at the Universidad de Oviedo entered into a partnership with the Asturian regional government. Its purpose was to tackle a limitation in the Asturian health system, which had previously been required to outsource molecular biology studies of oncological pathologies to other centres. The laboratory became fully operational in 2006.
‘Personalised medicine’ has taken on increasing importance in cancer treatment over the past few years. This means that clinicians need to know what genetic alterations are present in the tumour before deciding on the type of therapy to offer the patient, given that drugs have been specifically developed for tumours with certain genetic alterations. In the Molecular Oncology Laboratory, at the oncologist’s request, we study those alterations for which a specific drug exists, providing vital information for the design of each patient’s treatment. It is important to be aware that these types of specific treatments only work in suitable patients and may be counter-productive for those who do not have the genetic alteration. Our work in this area currently includes the molecular characterisation of metastatic colon and lung tumours and metastatic melanomas, with studies of over 600 samples per year, which reach us from all parts of Asturias.
We also participate in the genetic characterisation and progressive monitoring of haematological malignancies, the results of which show clinicians the possible response to treatment and whether any changes need to be made to that treatment, in light of the alterations identified or quantified. In some forms of leukaemia, for example, we design completely personalised studies for the molecular monitoring of a patient, in line with the genetic alterations involved in his or her disease.
The Molecular Oncology Laboratory also conducts studies on genetic susceptibility to cancer. Learning about alterations in genes that create a predisposition to cancer in high-risk families can help preventive measures to be taken for carriers of certain mutations. We carry out these studies in close collaboration with the Genetic Counselling Unit for familial cancer, following a set of criteria agreed upon at a national level.
The fact that HUCA’s Molecular Oncology Laboratory is available to all patients in Asturias enables closer collaboration and communication with clinicians, and helps to optimise studies, which generally use scarce, valuable patient samples that may need to undergo additional tests in other laboratories in the hospital. One of the laboratory’s most important qualities is its adaptability and ability to evolve. We attempt to provide the best possible response to the questions that arise in the clinical setting, ensuring that the range of services available and methodologies in use are progressively expanded and adapted to requirements.
- Pioneering detection of EGFR gene mutations in lung adenocarcinomas and development of quick and simple methods for introducing this technique into a diagnostic laboratory.
- Characterisation of tumours of glial origin through microRNA expression profiles.
- Identification of alterations in genes involved in targeted cancer therapies. Application in basal-phenotype breast cancer. Identification of trastuzumab resistance markers in breast cancer.
- Identification of alterations in genes involved in familial cancer. Application of new technologies in the analysis of exomes.
- AUTHORS: Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M.
TITLE: Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.
BMC Cancer. 2017 Feb 21;17(1):146.
- AUTHORS: Valdés-Mas R, Gutiérrez-Abril J, Pitiot AS, Santamaría I, Puente DA, Muñiz Lobato S, Balbín M, Puente XS.
TITLE: Transplacental transfer of essential thrombocythemia in monozygotic twins.
Blood. 2016 Aug 10. pii: blood-2016-06-724252. (Epub ahead of print) PubMed PMID: 27512155.
- AUTHORS: Santamaría I, Menéndez ST, Balbín M.
TITLE: EGFR L858R mutation may go undetected because of P848L in cis mutation.
J Clin Oncol. 2013 Sep 10;31(26):e420-1
- AUTHORS: Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M.
TITLE: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
BMC Cancer. 2013 May 17;13:243.
- AUTHORS: Centeno I, Blay P, Santamaría I, Astudillo A, Pitiot AS, Osorio FG, González-Arriaga P, Iglesias F, Menéndez P, Tardón A, Freije JM, Balbín M.
TITLE: Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: a novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma.
BMC Cancer. 2011 May 16;11:172.
|Title||Funding Body||Duration||Reference No|
|Partnership between the Fundación CajaRural de Asturias and the Hospital Universitario Central de Asturias for the promotion of molecular oncology research||Fundación CajaRural Asturias.||2012-2015|
|Genomic analysis of hereditary cancer||MEC (SAF2013-45836-R)|
|Genomic analysis of familial cancer through exome sequencing||MICIN (SAF2010-21165)|
|Partnership between the Fundación CajaRural de Asturias and the Hospital Universitario Central de Asturias for the promotion of molecular oncology research||Fundación CajaRural Asturias (CajaRural de Asturias Foundation)||2008-2011|
|Identification of trastuzumab resistance markers in breast cancer||2009-2010||FIS (PI08/90298)|
|Identification of molecular microRNA expression profiles in tumours of glial origin||2007-2009||MEC (SAF2006-03280)|
|Identification of genetic alterations in genes belonging to the epidermal growth factor receptor (EGFR) family in lung cancer: towards the rationalised selection of antitumour treatment||Fundación MMA de Investigación Médica (MMA Medical Research Foundation)||2005-2007|