Sylvie Mazoyer

Overview

Best Publications

• Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

  Stig E. Bojesen;Stig E. Bojesen;Karen A. Pooley;Sharon E. Johnatty;Jonathan Beesley

  643
  Citations

• Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

  S. A. Gayther;W. Warren;S. Mazoyer;P. A. Russell

  615
  Citations

• Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

  Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

  513
  Citations

• Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

  Catherine M Phelan;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Jonathan P Tyrer;Siddhartha P Kar

  457
  Citations

• A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

  Antonis C. Antoniou;Xianshu Wang;Zachary S. Fredericksen;Lesley McGuffog

  404
  Citations

• Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

  Roger L Milne;Roger L Milne;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Kyriaki Michailidou;Kyriaki Michailidou;Jonathan Beesley

  376
  Citations

• Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

  Antonis C. Antoniou;Antonis C. Antoniou;Amanda B. Spurdle;Amanda B. Spurdle;Olga M. Sinilnikova;Olga M. Sinilnikova;Sue Healey;Sue Healey

  375
  Citations

• Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

  Fergus J. Couch;Xianshu Wang;Lesley McGuffog;Andrew Lee

  372
  Citations

• Down-regulation of BRCA1 Expression by miR-146a and miR-146b-5p in Triple Negative Sporadic Breast Cancers

  Amandine I Garcia;Monique Buisson;Pascale Bertrand;Ruth Rimokh

  350
  Citations

• Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

  Susan L. Neuhausen;Sylvie Mazoyer;Lori Friedman;Michael Stratton

  320
  Citations

• Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

  Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Lesley McGuffog;Daniel Barrowdale;Andrew Lee

  319
  Citations

• The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

  Laure Perrin-Vidoz;Olga M. Sinilnikova;Dominique Stoppa-Lyonnet;Gilbert M. Lenoir

  313
  Citations

• Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

  Claude Houdayer;Virginie Caux-Moncoutier;Sophie Krieger;Michel Barrois

  270
  Citations

• Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

  Olga M. Serova;Sylvie Mazoyer;Nadine Puget;Valérie Dubois

  253
  Citations

• Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

  Antonis C. Antoniou;Jonathan Beesley;Lesley McGuffog;Olga M. Sinilnikova

  244
  Citations

• A polymorphic stop codon in BRCA2

  Sylvie Mazoyer;Sylvie Mazoyer;Alison M. Dunning;Olga Serova;Olga Serova;Joanna Dearden

  239
  Citations

• Screening for Germ-Line Rearrangements and Regulatory Mutations in BRCA1 Led to the Identification of Four New Deletions

  Nadine Puget;Nadine Puget;Dominique Stoppa-Lyonnet;Olga M. Sinilnikova;Olga M. Sinilnikova;Sabine Pagès

  239
  Citations

• Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing

  Meredith A. Unger;Katherine L. Nathanson;Kathleen Calzone;Danielle Antin-Ozerkis

  220
  Citations

• Genomic rearrangements in the BRCA1 and BRCA2 genes.

  Sylvie Mazoyer

  217
  Citations

• Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

  Mitra N Rebbeck Tr;F Wan;Maurizio Genuardi

  0
  Citations