Trinidad Caldes

Summary

Country: Spain

Publications

  1. ncbi request reprint Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both
    Miguel de la Hoya
    Molecular Oncology Unit, Hospital Clinico San Carlos, Madrid, Spain
    JAMA 290:929-31. 2003
  2. ncbi request reprint Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
    Trinidad Caldes
    Laboratory of Molecular Oncology, San Carlos University Hospital, Madrid, Spain
    Int J Cancer 98:774-9. 2002
  3. ncbi request reprint Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer
    Trinidad Caldes
    Molecular Oncology Laboratory, Hospital Clinico San Carlos, Martin Lagos s n, 28040 Madrid, Spain
    Oncol Rep 12:621-9. 2004
  4. ncbi request reprint No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Int J Cancer 103:136-7. 2003
  5. doi request reprint Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families
    Maria 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
  6. doi request reprint Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Roger 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
  7. pmc Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families
    Gorka Ruiz de Garibay
    Laboratorio de Oncologia Molecular, Instituto de Investigación Sanitaria San Carlos, Madrid, Spain
    Eur J Hum Genet 21:883-6. 2013
  8. ncbi request reprint Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
    Int J Cancer 100:618-9. 2002
  9. ncbi request reprint The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families
    Ana 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
  10. doi request reprint 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 origin
    Gorka 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

Detail Information

Publications44

  1. ncbi request reprint Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both
    Miguel 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...
  2. ncbi request reprint Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
    Trinidad 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...
  3. ncbi request reprint Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer
    Trinidad 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...
  4. ncbi request reprint No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Int J Cancer 103:136-7. 2003
  5. doi request reprint Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families
    Maria 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
    ....
  6. doi request reprint Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Roger 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...
  7. pmc Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families
    Gorka Ruiz de Garibay
    Laboratorio de Oncologia Molecular, Instituto de Investigación Sanitaria San Carlos, Madrid, Spain
    Eur J Hum Genet 21:883-6. 2013
    ..Overall, the study indicates that SLX4 mutation screening will have a very low impact (if any) in the genetic counseling of non-BRCA1/2 families. ..
  8. ncbi request reprint Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
    Int J Cancer 100:618-9. 2002
    ..Further analysis involving a larger set of mutations and different populations are needed to clarify the relevance of this unexpected finding...
  9. ncbi request reprint The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families
    Ana 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...
  10. doi request reprint 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 origin
    Gorka 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...
  11. ncbi request reprint Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian families
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Clinico San Carlos, Madrid, Spain
    Fam Cancer 4:317-9. 2005
    ....
  12. doi request reprint The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger 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...
  13. ncbi request reprint Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain
    Ana 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...
  14. ncbi request reprint Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results
    Pedro 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...
  15. ncbi request reprint Mutant BRCA1 alleles transmission: different approaches and different biases
    Miguel de la Hoya
    Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain
    Int J Cancer 113:166-7. 2005
    ..In this report we propose different approaches to overcome such biases and we present additional data supporting a non-random transmission of BRCA1 mutant alleles...
  16. ncbi request reprint The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population
    Ana 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...
  17. doi request reprint Study of KRAS new predictive marker in a clinical laboratory
    Inmaculada Bando
    Laboratorio de Oncologia Molecular, Planta baja sur, Hospital Clinico San Carlos, c Martin Lagos s n, Madrid, 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...
  18. ncbi request reprint Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR
    Carmen 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...
  19. ncbi request reprint Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways
    Ana 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...
  20. ncbi request reprint Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
    Miguel de la Hoya
    Laboratorio de Oncología Molecular y Servicio de Oncología Médica, Hospital Clinico San Carlos, Madrid, and Instituto de Biología y Genética Molecular, Facultad de Medicina, Universidad de Valladolid, Spain
    Clin Chem 52:1480-5. 2006
    ..Great differences in the spectrum and prevalence of BRCA1 LGR have been observed among populations. Here we report the first comprehensive analysis of BRCA1 LGRs conducted in Spain...
  21. doi request reprint Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families
    Ana 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
    ....
  22. doi request reprint Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers
    Ana 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
    ....
  23. doi request reprint A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families
    Atocha 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...
  24. doi request reprint Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study
    Vanesa 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...
  25. doi request reprint Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles
    Ana Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, CNIO, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases CIBERER, Spain
    Hum Mutat 34:1615-8. 2013
    ..Finally, we identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair. ..
  26. pmc Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
    Francisco Javier Gracia-Aznárez
    Human Genetics Group, Spanish National Cancer Centre CNIO, Madrid, Spain
    PLoS ONE 8:e55681. 2013
    ....
  27. pmc Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families
    Atocha Romero
    Molecular Oncology Laboratory, Instituto de Investigación Sanitaria San Carlos, Madrid, Spain
    PLoS ONE 8:e72195. 2013
    ..In addition, our data suggests that nonhomologous events would be more frequently involved in the etiology of MSH2 LGRs than expected. ..
  28. ncbi request reprint Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
    Ana 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...
  29. ncbi request reprint Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
    Ana Osorio
    Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Int J Cancer 99:305-9. 2002
    ....
  30. doi request reprint Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants
    Gorka Ruiz de Garibay
    Laboratorio de Oncologia Molecular, Instituto de Investigacíon Sanitaria San Carlos IdISSC, Madrid, Spain
    Hum Mutat 35:53-7. 2014
    ..682-2A>G, c.7617+1G>A, and c.8954-5A>G), and 27 analytical Class-2 variants (not inducing splicing alterations). In addition, we demonstrate that rs9534262 (c.7806-14T>C) is a BRCA2 splicing quantitative trait locus. ..
  31. doi request reprint Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases
    Beatriz 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...
  32. ncbi request reprint Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing
    Miguel 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...
  33. doi request reprint 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...
  34. doi request reprint 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...
  35. doi request reprint Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuximab
    Pablo Gajate
    Department of Clinical Oncology, Hospital Clínico San Carlos HCSC, Madrid, Spain
    Clin Colorectal Cancer 11:291-6. 2012
    ..We conducted an analysis to study the influence of the KRAS p.G13D mutation in patients with mCRC who were treated with cetuximab...
  36. pmc Colon cancer molecular subtypes identified by expression profiling and associated to stroma, mucinous type and different clinical behavior
    Beatriz Perez-Villamil
    Molecular Oncology Laboratory, Medical Oncology Department, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos IdISSC, c Martin Lagos s n, Madrid, 28040, Spain
    BMC Cancer 12:260. 2012
    ....
  37. ncbi request reprint Overexpression of SPARC protein contrasts with its transcriptional silencing by aberrant hypermethylation of SPARC CpG-rich region in endometrial carcinoma
    Francisco 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...
  38. ncbi request reprint Breast-cancer stromal cells with TP53 mutations and nodal metastases
    Attila 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...
  39. ncbi request reprint TGFBR1*6A may contribute to hereditary colorectal cancer
    Yansong 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...
  40. pmc Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation
    Frank Weber
    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA
    Am J Hum Genet 78:961-72. 2006
    ....
  41. ncbi request reprint Increased frequency of disease-causing MYH mutations in colon cancer families
    Paolo 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...
  42. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis 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
    ....
  43. ncbi request reprint Somatic acquisition and signaling of TGFBR1*6A in cancer
    Boris 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...
  44. ncbi request reprint 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 Group
    Richard 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...