Gloria Ribas

Summary

Country: Spain

Publications

  1. ncbi request reprint Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
    Gloria Ribas
    Grupo de Genética Humana Programa de Patología Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fdz Almagro 3, E 28029 Madrid, Spain
    Hum Genet 118:669-79. 2006
  2. ncbi request reprint Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection
    Gloria Ribas
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre CNIO, Madrid, Spain
    Eur J Hum Genet 16:252-60. 2008
  3. doi request reprint Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2
    Maider Ibarrola-Villava
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Exp Dermatol 19:836-44. 2010
  4. pmc Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies
    Eva Barroso
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    BMC Cancer 8:385. 2008
  5. ncbi request reprint ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping
    Roger Laughlin Milne
    National Genotyping Centre, Spanish National Cancer Centre, Madrid, Spain
    Cancer Res 66:9420-7. 2006
  6. ncbi request reprint Pigmentation-related genes and their implication in malignant melanoma susceptibility
    Lara P Fernandez
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid E 28029, Spain
    Exp Dermatol 18:634-42. 2009
  7. ncbi request reprint The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Centre, C Melchior Fernandez Almagro 3, 28029 Madrid, Spain
    Int J Cancer 110:845-9. 2004
  8. pmc Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
    Montserrat Garcia-Closas
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America
    PLoS Genet 4:e1000054. 2008
  9. pmc Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, CB2 0XY, UK
    Nature 450:887-92. 2007
  10. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007

Detail Information

Publications15

  1. ncbi request reprint Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
    Gloria Ribas
    Grupo de Genética Humana Programa de Patología Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fdz Almagro 3, E 28029 Madrid, Spain
    Hum Genet 118:669-79. 2006
    ..Our results show generally high concordance with HapMap data in allele frequencies and haplotype distributions and confirm the applicability of HapMap SNP data to the study of complex diseases among the Spanish population...
  2. ncbi request reprint Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection
    Gloria Ribas
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre CNIO, Madrid, Spain
    Eur J Hum Genet 16:252-60. 2008
    ..4); however, these genes did not show evidence of positive selection. Finally, we found no evidence that the haplotypes formed by SNPs in the 20 genes are associated with breast cancer...
  3. doi request reprint Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2
    Maider Ibarrola-Villava
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Exp Dermatol 19:836-44. 2010
    ..We found that the variant allele A > G of OCA2/HERC2 (rs12913832) was associated with pigmentation features: eye, hair and skin colour; P-values = 1.8 x 10(-29), 9.2 x 10(-16), 1.1 x 10(-3), respectively, validating previous results...
  4. pmc Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies
    Eva Barroso
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    BMC Cancer 8:385. 2008
    ..In this study, the VDR gene has been evaluated in two epithelial cancers BC and MM...
  5. ncbi request reprint ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping
    Roger Laughlin Milne
    National Genotyping Centre, Spanish National Cancer Centre, Madrid, Spain
    Cancer Res 66:9420-7. 2006
    ..This study suggests that common intronic variation in ERCC4 is associated with protection from breast cancer...
  6. ncbi request reprint Pigmentation-related genes and their implication in malignant melanoma susceptibility
    Lara P Fernandez
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid E 28029, Spain
    Exp Dermatol 18:634-42. 2009
    ..We also found that several variants in the pigmentation genes considered were associated with intermediate phenotypic characteristics. Our findings highlight the potential importance of pigmentation genes in sporadic MM susceptibility...
  7. ncbi request reprint The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Centre, C Melchior Fernandez Almagro 3, 28029 Madrid, Spain
    Int J Cancer 110:845-9. 2004
    ..This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2...
  8. pmc Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
    Montserrat Garcia-Closas
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America
    PLoS Genet 4:e1000054. 2008
    ..Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment...
  9. pmc Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, CB2 0XY, UK
    Nature 450:887-92. 2007
    ..Taken together with previous studies, we conclude that MHC-class-I-mediated events, principally involving HLA-B*39, contribute to the aetiology of type 1 diabetes...
  10. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  11. ncbi request reprint A common coding variant in CASP8 is associated with breast cancer risk
    Angela Cox
    Sheffield University Medical School, Sheffield S10 2RX, UK
    Nat Genet 39:352-8. 2007
    ..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
  12. ncbi request reprint Allelic expression and quantitative RT-PCR study of TAp73 and DeltaNp73 in non-Hodgkin's lymphomas
    Marta Cuadros
    Human Genetics Department, Spanish National Cancer Centre CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
    Leuk Res 30:170-7. 2006
    ..Finally, we have confirmed that although DeltaNp73 over-expression could be an alternative mechanism of p53 inactivation, both alterations may appear together...
  13. ncbi request reprint Mutation in myosin heavy chain 6 causes atrial septal defect
    Yung Hao Ching
    Institute of Genetics, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
    Nat Genet 37:423-8. 2005
    ..These data provide evidence for a link between a transcription factor, a structural protein and congenital heart disease...
  14. ncbi request reprint A novel gene encoding a coiled-coil mitochondrial protein located at the telomeric end of the human MHC Class III region
    Jennifer I Semple
    Functional Genomics Group, MRC Rosalind Franklin Centre for Genomics Research, Hinxton, CB10 1SB, Cambridge, UK
    Gene 314:41-54. 2003
    ..Interestingly, MCCD1 contains four SNPs within the coding region, three of which cause nonsynonymous and nonconservative changes in the amino acid sequence...
  15. pmc Genetic variability of immunomodulatory genes in ectromelia virus isolates detected by denaturing high-performance liquid chromatography
    Gloria Ribas
    MRC UK HGMP Resource Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SB, UK
    J Virol 77:10139-46. 2003
    ..The low genetic variability suggests that evolutionary pressure maintains the activity of immunomodulatory genes in natural poxvirus infections...