Ignacio Blanco

Summary

Publications

  1. pmc Alpha-1 Antitrypsin Deficiency PI*Z and PI*S Gene Frequency Distribution Using on Maps of the World by an Inverse Distance Weighting (IDW) Multivariate Interpolation Method
    Ignacio Blanco
    The Principality of Asturias Biomedical Research Office OIB FICYT, Oviedo, Spain Alpha1 Antitrypsin Deficiency Spanish Registry, Barcelona, Spain
    Hepat Mon 12:e7434. 2012
  2. pmc Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
    Ignacio Blanco
    Biomedical Research Office OIB FICYT, Rosal, 7 33009 Oviedo, Principality of Asturias, Spain
    Orphanet J Rare Dis 6:14. 2011
  3. doi Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients
    Ignacio Blanco
    Department of Internal Medicine, Valle del Nalon Hospital, 33920 Langreo, Principado de Asturias, Spain
    Clin Rheumatol 29:1403-12. 2010
  4. pmc Allele-specific expression of APC in adenomatous polyposis families
    Ester Castellsagué
    Translational Research Laboratory, Institut d Investigacions Biomédiques de Bellvitge Institut Català d Oncologia, Barcelona, Spain
    Gastroenterology 139:439-47, 447.e1. 2010
  5. pmc MLH1 methylation screening is effective in identifying epimutation carriers
    Marta Pineda
    Hereditary Cancer Program, Catalan Institute of Oncology, ICO IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 20:1256-64. 2012
  6. doi A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism
    Juana Fernández-Rodríguez
    Hereditary Cancer Program, Genetic Diagnosis Unit, Institut Catala d Oncologia, Badalona, Barcelona, Spain
    Hum Mutat 32:705-9. 2011
  7. pmc Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
    Lídia Feliubadaló
    Hereditary Cancer Program, Catalan Institute of Oncology, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 21:864-70. 2013
  8. pmc Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer
    Nuria Seguí
    Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    PLoS ONE 9:e86063. 2014
  9. doi Low plasma levels of monocyte chemoattractant protein-1 (MCP-1), tumor necrosis factor-alpha (TNFalpha), and vascular endothelial growth factor (VEGF) in patients with alpha1-antitrypsin deficiency-related fibromyalgia
    Ignacio Blanco
    Department of Internal Medicine, Valle del Nalon Hospital, 33920, Riaño Langreo, Principado de Asturias, Spain
    Clin Rheumatol 29:189-97. 2010
  10. pmc Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH
    Carles Garcia-Linares
    Institut de Medicina Predictiva i Personalitzada del Càncer, Badalona, Barcelona, Spain
    Hum Mutat 32:78-90. 2011

Collaborators

Detail Information

Publications29

  1. pmc Alpha-1 Antitrypsin Deficiency PI*Z and PI*S Gene Frequency Distribution Using on Maps of the World by an Inverse Distance Weighting (IDW) Multivariate Interpolation Method
    Ignacio Blanco
    The Principality of Asturias Biomedical Research Office OIB FICYT, Oviedo, Spain Alpha1 Antitrypsin Deficiency Spanish Registry, Barcelona, Spain
    Hepat Mon 12:e7434. 2012
    ..1...
  2. pmc Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
    Ignacio Blanco
    Biomedical Research Office OIB FICYT, Rosal, 7 33009 Oviedo, Principality of Asturias, Spain
    Orphanet J Rare Dis 6:14. 2011
    ....
  3. doi Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients
    Ignacio Blanco
    Department of Internal Medicine, Valle del Nalon Hospital, 33920 Langreo, Principado de Asturias, Spain
    Clin Rheumatol 29:1403-12. 2010
    ..Our findings open new avenues of research on FMS mechanisms and will benefit the diagnosis of patients and the development of therapeutics...
  4. pmc Allele-specific expression of APC in adenomatous polyposis families
    Ester Castellsagué
    Translational Research Laboratory, Institut d Investigacions Biomédiques de Bellvitge Institut Català d Oncologia, Barcelona, Spain
    Gastroenterology 139:439-47, 447.e1. 2010
    ..Here, we analyzed the prevalence of imbalances in the allelic expression of APC in polyposis families with germline mutations in the gene and without detectable mutations in APC and/or MUTYH...
  5. pmc MLH1 methylation screening is effective in identifying epimutation carriers
    Marta Pineda
    Hereditary Cancer Program, Catalan Institute of Oncology, ICO IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 20:1256-64. 2012
    ..The present study adds further evidence to the emerging entity of soma-wide MLH1 epimutation and its heritability...
  6. doi A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism
    Juana Fernández-Rodríguez
    Hereditary Cancer Program, Genetic Diagnosis Unit, Institut Catala d Oncologia, Badalona, Barcelona, Spain
    Hum Mutat 32:705-9. 2011
    ..Our results provide an example of the molecular complexity behind disease phenotypes and highlight the importance of using comprehensive genetic approaches to better assess phenotype-genotype correlations...
  7. pmc Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
    Lídia Feliubadaló
    Hereditary Cancer Program, Catalan Institute of Oncology, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 21:864-70. 2013
    ..The use of NGS for detecting copy-number alterations was also investigated. The workflow meets the sensitivity and specificity requirements for the genetic diagnosis of HBOCS and improves on the cost-effectiveness of current approaches. ..
  8. pmc Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer
    Nuria Seguí
    Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    PLoS ONE 9:e86063. 2014
    ..Despite the retrospective nature of our study, the results show that longer telomeres associate with cancer risk in fCRC-X, thus identifying different patterns of telomere length according to the status of the MMR system. ..
  9. doi Low plasma levels of monocyte chemoattractant protein-1 (MCP-1), tumor necrosis factor-alpha (TNFalpha), and vascular endothelial growth factor (VEGF) in patients with alpha1-antitrypsin deficiency-related fibromyalgia
    Ignacio Blanco
    Department of Internal Medicine, Valle del Nalon Hospital, 33920, Riaño Langreo, Principado de Asturias, Spain
    Clin Rheumatol 29:189-97. 2010
    ..Thus, hypotheses considering FMS as an inflammatory condition related to high plasma levels of inflammatory biomarkers cannot be supported...
  10. pmc Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH
    Carles Garcia-Linares
    Institut de Medicina Predictiva i Personalitzada del Càncer, Badalona, Barcelona, Spain
    Hum Mutat 32:78-90. 2011
    ..Analysis of the prevalence of mechanisms causing LOH in dNFs in individual patients (possibly under genetic control) will elucidate whether there exist interindividual variation...
  11. pmc Telomere length and genetic anticipation in Lynch syndrome
    Nuria Seguí
    Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    PLoS ONE 8:e61286. 2013
    ..Pending further study, our findings suggest that telomere attrition might explain the previously reported dependence of cancer risk on the parent-of-origin of mismatch repair gene mutations...
  12. doi Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments
    Ester Castellsagué
    Translational Research Laboratory, IDIBELL Institut Català d Oncologia, Barcelona, Spain
    Clin Chem 54:1132-40. 2008
    ..We used QMPSF for the APC gene to screen FAP APC/MUTYH mutation-negative families to improve their diagnostic surveillance...
  13. doi Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis
    Mireia Menendez
    Laboratori de Recerca Translacional, Departament de Prevenció i Control del Càncer, Servei d Epidemiologia i Registre del Cancer, Institut d Investigació Biomèdica de Bellvitge Institut Català d Oncologia, L Hospitalet de Llobregat, Barcelona, Spain
    Gastroenterology 134:56-64. 2008
    ..The variant was located in the first of the 4 highly conserved 15-amino acid (AA) repeats within the beta-catenin union domain. Our aim was to determine its functional relevance to establish its pathogenicity...
  14. pmc Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
    Juana Fernández-Rodríguez
    Hereditary Cancer Program, Catalan Institute of Oncology ICO, Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet, Barcelona, Catalonia, Spain
    BMC Cancer 12:84. 2012
    ..A mutation analysis of SLX4 in German or Byelorussian familial cases of breast cancer without detected mutations in BRCA1 or BRCA2 has been completed, with globally negative results...
  15. ncbi Novel methylation panel for the early detection of colorectal tumors in stool DNA
    Daniel Azuara
    Translational Research Laboratory, Institut Català d Oncologia IDIBELL, Barcelona, Spain
    Clin Colorectal Cancer 9:168-76. 2010
    ....
  16. doi MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families
    Ester Borràs
    Laboratori de Recerca Translacional, Institut Catala d Oncologia, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    Cancer Res 70:7379-91. 2010
    ..306+5G>A and c.1865T>A mutations. These findings have important implications for genetic counseling and molecular diagnosis of Lynch syndrome...
  17. pmc Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment
    Eva Pros
    Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d Oncologia Institut d Investigació Biomèdica de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 18:614-7. 2010
    ..However, owing to the nature of mutations in our patients, kinetin treatment could not be used as a therapeutic agent in these cases...
  18. pmc Functional and structural analysis of C-terminal BRCA1 missense variants
    Francisco Quiles
    Hereditary Cancer Program, Catalan Institute of Oncology Bellvitge Institute for Biomedical Research, Girona Institute for Biomedical Research, Germans Trial i Pujol Research Institute, ICO IDIBELL, ICO IdIBGi, ICO IGTP, L Hospitalet de Llobregat, Barcelona, Spain
    PLoS ONE 8:e61302. 2013
    ..In conclusion, our results suggest that variants Y1703S, W1718L and G1770V can be classified as likely pathogenic BRCA1 mutations...
  19. doi Detection of genetic alterations in hereditary colorectal cancer screening
    Marta Pineda
    Translational Research Laboratory and Cancer Genetic Counseling Program, Av Gran Via de L Hospitalet 199 203, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Mutat Res 693:19-31. 2010
    ..Also functional tests are more often used to characterize variants of unknown significance. Methodological issues associated with the techniques analyzed, as well as the algorithms used, are discussed...
  20. doi Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants
    Ester Borràs
    Hereditary Cancer Program, Catalan Institute of Oncology, ICO IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    J Med Genet 50:552-63. 2013
    ..The aim of this study was to evaluate the role of PMS2 in LS by assessing the pathogenicity of variants of unknown significance (VUS) detected in the mutational analysis of PMS2 in a series of Spanish patients...
  21. ncbi Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families
    Jordi Romero-Gimenez
    Molecular Oncology Group, Molecular Biology and Biochemistry Research Center CIBBIM, Nanomedicine Research Program, Vall d Hebron Hospital Research Institute, Barcelona, Spain
    Int J Cancer 122:1422-5. 2008
    ..These results substantially contribute to clarify the potential role of germline epimutations as a cause of inherited predisposition to cancer...
  22. ncbi [PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain]
    Ignacio Blanco
    Seccion de Neumologia, Servicio de Medicina Interna, Hospital Valle del Nalon, Langreo, Principado de Asturias, Spain
    Med Clin (Barc) 123:761-5. 2004
    ....
  23. ncbi Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer
    Victor Moreno
    Institut d Investigacio Biomedica de Bellvitge, Institut Catala d Oncologia, Hospitalet, Barcelona, Spain
    Clin Cancer Res 12:2101-8. 2006
    ..We have undertaken a comprehensive study of common polymorphisms in genes of DNA repair, exploring both the risk of developing colorectal cancer and the prognosis of patients...
  24. doi Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification
    Eva Musulen
    Department of Pathology, Hospital Universitari Germans Trias i Pujol, C Ctra de Canyet s n, 08916 Badalona, Barcelona, Spain
    Hum Pathol 44:412-6. 2013
    ....
  25. pmc Serum concentration of alpha-1 antitrypsin is significantly higher in colorectal cancer patients than in healthy controls
    Sergio Pérez-Holanda
    General Surgery Department, Hospital Valle del Nalon, 33920 Langreo, Principality of Asturias, Spain
    BMC Cancer 14:355. 2014
    ..The present study compares AAT serum concentrations and gene frequencies between a group of CRC patients and a control group of healthy unrelated people (HUP)...
  26. ncbi Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
    Eva Pros
    Laboratori de Recerca Translacional, Institut Català d Oncologia Institut d Investigació Biomèdica de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
    Hum Mutat 30:454-62. 2009
    ....
  27. ncbi Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis
    Hafid Alazzouzi
    Molecular Oncology and Aging Research, Centre d Investigacions en Bioquimica i Biologia Molecular CIBBIM, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Hum Mol Genet 14:235-9. 2005
    ....
  28. pmc Clinical impact of a gluten-free diet on health-related quality of life in seven fibromyalgia syndrome patients with associated celiac disease
    Luis Rodrigo
    Gastroenterology, Central University Hospital of Asturias HUCA, Celestino Villamil, S N, 33006, Oviedo, Principality of Asturias, Spain
    BMC Gastroenterol 13:157. 2013
    ..To assess the effectiveness of a Gluten-Free Diet (GFD) in seven adult female screening-detected CD subjects, categorized as severe IBS and FMS patients...
  29. ncbi Alpha1-antitrypsin replacement therapy controls fibromyalgia symptoms in 2 patients with PI ZZ alpha1-antitrypsin deficiency
    Ignacio Blanco
    Department of Internal Medicine, Respiratory Diseases Branch, Hospital Valle del Nalon, Asturias, Spain
    J Rheumatol 31:2082-5. 2004
    ..As a result, we observed a striking recurrence of FM symptoms. Equally striking was the total disappearance of these symptoms when AAT replacement therapy infusions were resumed...