Sylvie Mazoyer

Summary

Country: France

Publications

  1. ncbi request reprint Genomic rearrangements in the BRCA1 and BRCA2 genes
    Sylvie Mazoyer
    Laboratoire de Génétique UMR5201 CNRS, Universite Claude Bernard Lyon 1, Lyon, France
    Hum Mutat 25:415-22. 2005
  2. ncbi request reprint Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene
    David J Hughes
    International Agency for Research on Cancer, Lyon, France
    Int J Cancer 117:230-3. 2005
  3. pmc Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
    David G Cox
    INSERM U1052, CNRS UMR5286, Universite Lyon 1, Cancer Research Center of Lyon, Lyon, France
    Hum Mol Genet 20:4732-47. 2011
  4. doi request reprint BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy
    Olga Anczukow
    Genetics of Breast Cancer Team, Cancer Research Centre of Lyon, CNRS UMR5286 Inserm U1052 Université Lyon 1, Centre Leon Berard, Lyon, France
    Clin Cancer Res 18:4903-9. 2012
  5. doi request reprint The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amandine I Garcia
    CNRS UMR5286 Inserm U1052, Equipe Labellisée LIGUE 2008, Universite Lyon 1, Cancer Research Centre of Lyon, Centre Leon Berard, Lyon, France
    Hum Mutat 32:1004-7. 2011
  6. pmc Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues
    Almoutassem B Zetoune
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Equipe Labellisée par Ligue Nationale contre Cance, Universite Lyon 1, Universite de Lyon, Faculte de Medecine, Lyon, France
    BMC Genet 9:83. 2008
  7. doi request reprint Unclassified variants identified in BRCA1 exon 11: Consequences on splicing
    Olga Anczukow
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Lyon, France
    Genes Chromosomes Cancer 47:418-26. 2008
  8. ncbi request reprint BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations
    Sophie M Ginolhac
    Centre National de la Recherche Scientifique, UMR 5641, Lyon, France
    Cancer Epidemiol Biomarkers Prev 12:90-5. 2003
  9. ncbi request reprint Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?
    Olga Anczukow
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Universite Lyon 1, Lyon, France
    Hum Mutat 29:65-73. 2008
  10. ncbi request reprint The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
    Monique Buisson
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer Unité Mixte de Recherche 5201 Centre National de la Recherche Scientifique, Universite Claude Bernard Lyon I, Lyon, France
    Hum Mutat 27:1024-9. 2006

Detail Information

Publications17

  1. ncbi request reprint Genomic rearrangements in the BRCA1 and BRCA2 genes
    Sylvie Mazoyer
    Laboratoire de Génétique UMR5201 CNRS, Universite Claude Bernard Lyon 1, Lyon, France
    Hum Mutat 25:415-22. 2005
    ..The principal mechanisms that are thought to lead to their formation, founder effects, and recombination hotspots, are also discussed...
  2. ncbi request reprint Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene
    David J Hughes
    International Agency for Research on Cancer, Lyon, France
    Int J Cancer 117:230-3. 2005
    ....
  3. pmc Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
    David G Cox
    INSERM U1052, CNRS UMR5286, Universite Lyon 1, Cancer Research Center of Lyon, Lyon, France
    Hum Mol Genet 20:4732-47. 2011
    ..In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription...
  4. doi request reprint BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy
    Olga Anczukow
    Genetics of Breast Cancer Team, Cancer Research Centre of Lyon, CNRS UMR5286 Inserm U1052 Université Lyon 1, Centre Leon Berard, Lyon, France
    Clin Cancer Res 18:4903-9. 2012
    ....
  5. doi request reprint The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amandine I Garcia
    CNRS UMR5286 Inserm U1052, Equipe Labellisée LIGUE 2008, Universite Lyon 1, Cancer Research Centre of Lyon, Centre Leon Berard, Lyon, France
    Hum Mutat 32:1004-7. 2011
    ..In conclusion, the polymorphism in the miR-146a gene is unlikely to be of substantial significance regarding breast cancer risk...
  6. pmc Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues
    Almoutassem B Zetoune
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Equipe Labellisée par Ligue Nationale contre Cance, Universite Lyon 1, Universite de Lyon, Faculte de Medecine, Lyon, France
    BMC Genet 9:83. 2008
    ..Here, we have explored this question by measuring the ratio of mutant versus wild-type Men1 transcripts in thirteen tissues from mice carrying a heterozygous truncating mutation in the ubiquitously expressed Men1 gene...
  7. doi request reprint Unclassified variants identified in BRCA1 exon 11: Consequences on splicing
    Olga Anczukow
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Lyon, France
    Genes Chromosomes Cancer 47:418-26. 2008
    ..The results of this study will be of value to classify BRCA1 exon 11 variants of unknown significance. This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat...
  8. ncbi request reprint BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations
    Sophie M Ginolhac
    Centre National de la Recherche Scientifique, UMR 5641, Lyon, France
    Cancer Epidemiol Biomarkers Prev 12:90-5. 2003
    ..27)...
  9. ncbi request reprint Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?
    Olga Anczukow
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer UMR5201 CNRS, Universite Lyon 1, Lyon, France
    Hum Mutat 29:65-73. 2008
    ..Therefore, our results show that it is not possible to infer the presence of truncated proteins in cells from carriers of a truncated mutation without experimental verification, as each case is expected to be different...
  10. ncbi request reprint The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
    Monique Buisson
    Laboratoire de Genetique Moleculaire, Signalisation et Cancer Unité Mixte de Recherche 5201 Centre National de la Recherche Scientifique, Universite Claude Bernard Lyon I, Lyon, France
    Hum Mutat 27:1024-9. 2006
    ..We show here that in the presence of a (PTC) at position 36 or 39, translation reinitiation occurs in the BRCA1 minigenes at position 128...
  11. 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
    ....
  12. ncbi request reprint BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families
    Olga M Sinilnikova
    Plate forme Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon Centre Léon Bérard, Lyon Cedex 08, 69373, France
    Fam Cancer 5:15-20. 2006
    ....
  13. ncbi request reprint The BRCA1 exon 13 duplication in the Swedish population
    Barbara Kremeyer
    Department of Molecular Medicine, Center for Molecular Medicine L8 02, Karolinska Institutet, Karolinska sjukhuset, 171 76 Stockholm, Sweden
    Fam Cancer 4:191-4. 2005
  14. ncbi request reprint Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers
    David J Hughes
    Unit of Genetic Epidemiology, IARC, 150, cours Albert Thomas, 69372 Lyon Cedex 08, France
    Cancer Epidemiol Biomarkers Prev 14:265-7. 2005
    ..We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population...
  15. pmc Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot
    Nadine Puget
    Laboratoire de Genetique, Unité Mixte de Recherche 5641 CNRS, Universite Claude Bernard, 8 avenue Rockefeller, 69373 Lyon Cedex 08, France
    Am J Hum Genet 70:858-65. 2002
    ..Thus, we report a new mutational mechanism for the BRCA1 gene. The presence of a large region homologous to BRCA1 on the same chromosome appears to constitute a hot spot for recombination...
  16. ncbi request reprint Significant contribution of germline BRCA2 rearrangements in male breast cancer families
    Isabelle Tournier
    Institut National de la Santé et de la Recherche Médicale INSERM U614, Faculty of Medicine, IFRMP, University of Rouen, Rouen, France
    Cancer Res 64:8143-7. 2004
    ..These data suggest that screening for BRCA2 rearrangements should be done, especially in male breast cancer families tested negative for BRCA1 and BRCA2 mutations...
  17. ncbi request reprint Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family
    Sophie Gad
    Service de génétique oncologique, Institut Curie, Paris, France
    Hum Mutat 21:654. 2003
    ..This 161 kb deletion encompassing the NBR1, PsiBRCA1, NBR2 and BRCA1 genes is the largest BRCA1 deletion reported so far. No specific phenotype was associated with the hemizygosity of these four genes...