- Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
Molecular Genetics Unit, Instituto de Investigación en Enfermedades Raras IIER, Instituto de Salud Carlos III ISCIII, Carretera Majadahonda Pozuelo Km 2, 200, Majadahonda, Madrid 28220, Spain
Respir Res 15:125. 2014
..It is usually related to PI*Z alleles, and less frequent to rare and null (QO) alleles. Null-AAT alleles represent the end of a continuum of variants associated with profound AAT deficiency and extremely increased risk of emphysema...
- 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
The Principality of Asturias Biomedical Research Office OIB FICYT, Oviedo, Spain Alpha1 Antitrypsin Deficiency Spanish Registry, Barcelona, Spain
Hepat Mon 12:e7434. 2012
- Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients
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...
- Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
Biomedical Research Office OIB FICYT, Rosal, 7 33009 Oviedo, Principality of Asturias, Spain
Orphanet J Rare Dis 6:14. 2011
- Allele-specific expression of APC in adenomatous polyposis families
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...
- MLH1 methylation screening is effective in identifying epimutation carriers
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...
- 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
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...
- Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
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. ..
- Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer
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. ..
- 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
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...
- Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis
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...
- Telomere length and genetic anticipation in Lynch syndrome
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...
- Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments
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...
- Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH
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...
- Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
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...
- Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment
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...
- MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families
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...
- Novel methylation panel for the early detection of colorectal tumors in stool DNA
Translational Research Laboratory, Institut Català d Oncologia IDIBELL, Barcelona, Spain
Clin Colorectal Cancer 9:168-76. 2010
- Functional and structural analysis of C-terminal BRCA1 missense variants
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...
- Detection of genetic alterations in hereditary colorectal cancer screening
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...
- Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants
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...
- Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families
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...
- [PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain]
Seccion de Neumologia, Servicio de Medicina Interna, Hospital Valle del Nalon, Langreo, Principado de Asturias, Spain
Med Clin (Barc) 123:761-5. 2004
- Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine
Hereditary Cancer Program, Catalan Institute of Oncology ICO IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain Translational Research Laboratory ICO IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
EMBO Mol Med 7:608-27. 2015
..The development of genomically well-characterized preclinical models for MPNST allowed the evaluation of novel therapeutic strategies for personalized medicine. ..
- Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer
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...
- Serum concentration of alpha-1 antitrypsin is significantly higher in colorectal cancer patients than in healthy controls
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)...
- Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification
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
- Clinical impact of a gluten-free diet on health-related quality of life in seven fibromyalgia syndrome patients with associated celiac disease
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...
- Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
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
- Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis
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
- Alpha1-antitrypsin replacement therapy controls fibromyalgia symptoms in 2 patients with PI ZZ alpha1-antitrypsin deficiency
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...