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Genomes and Genes | Trinidad CaldesSummaryCountry: Spain Publications
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Publications
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from SpainTrinidad Caldes
Laboratory of Molecular Oncology, San Carlos University Hospital, Madrid, Spain
Int J Cancer 98:774-9. 2002..Based on our results, we suggest that in the Spanish population not only HNPCC families fulfilling the Amsterdam criteria but also those following Bethesda guidelines should undergo genetic testing for MSH2 and MLH1 mutations...- Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancerTrinidad Caldes
Molecular Oncology Laboratory, Hospital Clinico San Carlos, Martin Lagos s n, 28040 Madrid, Spain
Oncol Rep 12:621-9. 2004..This practical method should have immediate application in the clinical work of patients with inherited colorectal cancer syndromes... - No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer familiesRaquel Rodríguez-López
Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
Int J Cancer 103:136-7. 2003 
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersRoger L Milne
Grupo de Epidemiología Genética y Molecular, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fernández Almagro, Madrid, Spain
Breast Cancer Res Treat 119:221-32. 2010..Whether later age at first birth is also protective for ovarian cancer in mutation carriers requires further confirmation...- The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish familiesAna Sanchez de Abajo
Laboratory of Molecular Oncology, Laboratorio de Oncologia Molecular, Planta baja sur, San Carlos University Hospital, Madrid 2820, Spain
Fam Cancer 4:183-6. 2005..Here, we demonstrate that this genetic variant is not of clinical relevance for HNPCC and HBCC Spanish families... - Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer familiesMaria J Garcia
Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre, CNIO, Madrid, Spain
Breast Cancer Res Treat 113:545-51. 2009.... - The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne
Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Clin Cancer Res 14:2861-9. 2008..We aimed to estimate these penetrances for women attending genetic counseling units in Spain... - Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian familiesMiguel de la Hoya
Laboratory of Molecular Oncology, Hospital Clinico San Carlos, Madrid, Spain
Fam Cancer 4:317-9. 2005.... - Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or bothMiguel de la Hoya
Molecular Oncology Unit, Hospital Clinico San Carlos, Madrid, Spain
JAMA 290:929-31. 2003..The BRCA1 gene is also involved in X-chromosome inactivation, suggesting the possibility that some sex-ratio distortion may be associated with BRCA1-related human cancer syndromes... - Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their originGorka Ruiz de Garibay
Laboratorio de Oncologia Molecular, Instituto de Investigación Sanitaria San Carlos, Hospital Clinico San Carlos, c Martin Lagos s n, 28040 Madrid, Spain
Breast Cancer Res Treat 133:273-83. 2012..Further on, we provide data to suggest that non-allelic homologous recombination has been overestimated as a mechanism underlying these alterations, while the opposite might be true for microhomology-mediated events... - Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and resultsPedro Perez Segura
Medical Oncology Department Genetic Counselling Unit, Hospital Clinico San Carlos, Madrid, Spain
Clin Transl Oncol 10:660-4. 2008..To analyse the level of adherence to prophylactic surgery of breast and/or ovarian cancer in female carriers of the BRCA1 or BRCA2 mutation in a referential genetic counselling unit in Spain... - Low prevalence of germline hMSH6 mutations in colorectal cancer families from SpainAna Sanchez de Abajo
Laboratorio de Oncologia Molecular, Hospital Clinico San Carlos, Martin Lagos s n, Madrid 28040, Spain
World J Gastroenterol 11:5770-6. 2005..To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2... - The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer populationAna Osorio
Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
Int J Cancer 108:54-6. 2004..However, our results suggest that this variant is absent or very infrequent in our population, making its screening irrelevant from the practical point of view... - Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathwaysAna Sanchez de Abajo
Laboratory of Molecular Oncology, Hospital Clinico San Carlos, Madrid, Spain
Clin Cancer Res 13:5729-35. 2007..The main objective of this study was to characterize these tumors at the molecular level... - Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancerMiguel de la Hoya
, , Madrid, , Facultad de Medicina, Universidad de Valladolid, Spain
Clin Chem 52:1480-5. 2006..MLPA analysis of positive samples with an alternative set of probes, together with long-range PCR and real-time PCR, is a feasible approach to confirm results in cases in which LGR breakpoints have not been characterized... - Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCRCarmen Cañadas
Laboratorio de Oncología Molecular y Servicio de Oncología Médica, Hospital Clinico San Carlos, 28040 Madrid, Spain
Anal Biochem 364:153-8. 2007..In addition, we suggest that tandem SNPs are potentially interesting polymorphic markers in which molecular haplotyping can be performed easily... - Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer familiesAna Osorio
Human Genetics Group, Human Cancer Genetics Programme, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, C Melchor Fernandez Almagro 3, Madrid, Spain
Hum Mol Genet 21:2889-98. 2012.... - A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer familiesAtocha Romero
Laboratorio de Oncologia Molecular, Planta baja sur Hospital Clínico San Carlos, c Martin Lagos s n, 28040 Madrid, Spain
Breast Cancer Res Treat 129:939-46. 2011..Interestingly, we have identified one clearly pathogenic mutation (c.774delT) in the subset of 101 breast and ovarian cancer families, supporting that RAD51C is a human breast and ovarian cancer susceptibility gene... - Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriersAna Custodio
Medical Oncology Department, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos IdISSC, Madrid, Spain
J Cancer Res Clin Oncol 138:867-75. 2012.... - Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case studyVanesa Dosil
Laboratorio de Oncologia Molecular, Hospital Clinico San Carlos, Madrid, Spain
Clin Chem 56:53-61. 2010..Unclassified variants (UVs) pose serious problems in genetic counseling. RNA-splicing analysis is essential for the assessment of many UVs... - Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutationsAna Osorio
Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
Eur J Hum Genet 11:489-92. 2003..These findings may have important consequences for the selection of families with higher probabilities of carrying mutations in the BRCA1 gene... - Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic casesBeatriz Martinez-Delgado
Human Genetics Group, Spanish National Cancer Research Centre CNIO, Madrid, Spain
J Med Genet 49:341-4. 2012..The present study analysed TL in peripheral blood leucocytes of hereditary and sporadic ovarian cancer cases, as well as in female controls, to evaluate whether TL contributes to ovarian cancer risk... - Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testingMiguel de la Hoya
Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
Int J Cancer 97:466-71. 2002..4% and 79%, respectively (probability cutoff of 30%). The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics... - Topoisomerase 2 alpha: a real predictor of anthracycline efficacy?Atocha Romero
Medical Oncology Department, Hospital Clinico San Carlos, Madrid, Spain
Clin Transl Oncol 14:163-8. 2012..However, results are not conclusive. In this paper, we review some of the published studies addressing the predictive value of TOP2A as well as the cellular functions of this enzyme and its status in breast cancer tissue... - Analysis of the oxidative damage repair genes NUDT1, OGG1, and MUTYH in patients from mismatch repair proficient HNPCC families (MSS-HNPCC)Pilar Garre
Laboratorio de Oncologia Molecular, Hospital Clinico San Carlos, Madrid, Spain
Clin Cancer Res 17:1701-12. 2011..Mutations in MUTYH have been associated with increased colorectal cancer (CRC) risk while no association has been described for OGG1 or NUDT1... - Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancerAna Osorio
Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Int J Cancer 99:305-9. 2002.... - Study of KRAS new predictive marker in a clinical laboratoryInmaculada Bando
Laboratorio de Oncologia Molecular, Planta baja sur, Hospital Clinico San Carlos, c Martin Lagos s n, Madrid, 28040, Spain
Clin Transl Oncol 14:937-42. 2012..Between 30 and 40 % of colorectal cancers contain a mutated KRAS oncogene. The aim of this study was to evaluate concordance between three methods to analyze KRAS mutational status in regard to clinical testing... - Overexpression of SPARC protein contrasts with its transcriptional silencing by aberrant hypermethylation of SPARC CpG-rich region in endometrial carcinomaFrancisco Javier Rodríguez-Jiménez
Departamento de Bioquimica y Biologia Molecular, Facultad de Farmacia, Universidad Complutense de Madrid, 28040 Madrid, Spain
Oncol Rep 17:1301-7. 2007..025), suggests an important role in the carcinogenesis of endometrial tumors. SPARC overexpression can be a useful molecular tool that may contribute to the diagnosis of this disease... - Breast-cancer stromal cells with TP53 mutations and nodal metastasesAttila Patocs
Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland 44195, USA
N Engl J Med 357:2543-51. 2007..We hypothesized that mutational inactivation of the tumor-suppressor gene TP53 and genomic alterations in stromal cells of a tumor's microenvironment contribute to the clinical outcome... 
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiationFrank Weber
Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA
Am J Hum Genet 78:961-72. 2006....- TGFBR1*6A may contribute to hereditary colorectal cancerYansong Bian
Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, Robert H Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, 676 N St Clair St, Suite 880, Chicago, IL 60611, USA
J Clin Oncol 23:3074-8. 2005..To test this hypothesis, we determined whether TGFBR16A contributes to a proportion of mismatch repair (MMR) gene mutation-negative hereditary nonpolyposis colorectal cancer (HNPCC) patients... - Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
Am J Hum Genet 82:937-48. 2008.... - Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating GroupRichard M Brohet
Netherlands Cancer Institute, Department of Epidemiology, Amsterdam, The Netherlands
J Clin Oncol 25:3831-6. 2007..However, duration of use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers... - Increased frequency of disease-causing MYH mutations in colon cancer familiesPaolo Peterlongo
Cell Biology Program, Memorial Sloan Kettering Cancer Center New York, NY, USA
Carcinogenesis 27:2243-9. 2006..These data further support a model in which low-penetrance alleles are enriched in MMR gene mutation-negative CRC families... - Somatic acquisition and signaling of TGFBR1*6A in cancerBoris Pasche
Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, The Feinberg School of Medicine, Northwestern, University, Chicago, Ill 60611, USA
JAMA 294:1634-46. 2005..Epidemiological studies suggest that TGFBR1*6A may act as a tumor susceptibility allele. How TGFBR1*6A contributes to cancer development is largely unknown...