Molecular Oncology Laboratory

GROPUO HEAD BIOGRAPHY

Milagros Balbín holds a PhD in Biology from the University of Oviedo. Her current position is the Head of the Laboratory of Molecular Oncology of the Central University Hospital of Asturias, position that she acceded in 2004 for the establishment of this Laboratory, being currently the reference for the entire public health network of Asturias, as support in the molecular diagnosis of cancer. Research studies of the team have been directed to the search of markers to be incorporated into the care laboratory, either with own projects, or participating through collaborations with other groups. Her previous work (1993-2004) focused, as a postdoctoral researcher at the University of Oviedo in the team of Dr. López Otín, in studies related to cancer, cloning of murine genes homologous to human metalloproteases and creation of animal models for the study of these proteases. She has co-directed three doctoral theses.

SELECTED PUBLICATIONS

• Bousquets-Muñoz P, Díaz-Navarro A, Nadeu F, Sánchez-Pitiot A, López-Tamargo S, Shuai S, Balbín M, Tubio JMC, Beà S, Martin-Subero JI, Gutiérrez-Fernández A, Stein LD, Campo E, Puente XS . PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2. NPJ Genom Med. 2022 Mar 14;7(1):19
• Oshima K, Zhao J, Pérez-Durán P, Brown JA, Patiño-Galindo JA, Chu T, Quinn A, Gunning T, Belver L, Ambesi-Impiombato A, Tosello V, Wang Z, Sulis ML, Kato M, Koh K, Paganin M, Basso G, Balbin M, Nicolas C, Gastier-Foster JM, Devidas M, Loh ML, Paietta E, Tallman MS, Rowe JM, Litzow M, Minden M, Meijerink J, Rabadan R & Ferrando A. Mutational and functional genetics mapping of chemotherapy resistance mechanisms in relapsed acute lymphoblastic leukemia Nature Cancer 2020; 1: 1113–1127.
• Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology. 2018 Jan;154(1):181-194.e20.
• Neumann MP, González MV, Pitiot AS, Santamaría Í, Martínez C, Tardón A, Astudillo A, Balbín M.  TP53 p.R72P genotype is a marker of poor prognosis in lung cancer.Cancer Biomark. 2018;21(4):747-754. doi: 10.3233/CBM-170230. PMID: 29286914
• Gutiérrez-Abril J, Santamaría I, Pitiot AS, Gutiérrez-Fernández A, Alvarez-Eguiluz Á, Vicente JM, Sanzo C, González-Muñiz S, Balbín M, Puente XS. A t(1;9) translocation involving CSF3R as a novel mechanism in unclassifiable chronic myeloproliferative neoplasm. Haematologica. 2017 Dec;102(12):e510-e513.
• Fernández-Martínez L, Villegas JA, Santamaría Í, Pitiot AS, Alvarado MG, Fernández S, Torres H, Paredes Á, Blay P, Balbín M. 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.
• Valdés-Mas R, Gutiérrez-Abril J, Pitiot AS, Santamaría I, Puente DA, Muñiz Lobato S, Balbín M, Puente XS. Transplacental transfer of essential thrombocythemia in monozygotic twins. Blood. 2016; 128(14):1894-1896.
• Santamaría I, Menéndez ST, Balbín M. EGFR L858R mutation may go undetected because of P848L in cis mutation. J Clin Oncol. (2013) 31(26):e420-1.
• Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M. Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). BMC Cancer (2013) 13: 243.
• 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. 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)11:172