Sylvie Mazoyer Chercheuse Inserm

Identifiants chercheurs

IdHAL :

sylvie-mazoyer

ORCID :

0000-0002-2135-0160

IdRef :

075600390

Publications

Article dans une revue (52)

B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI Lucas W Gauthier,Morgane Gossez,Christophe Malcus,Sébastien Viel,Guillaume Monneretet al. Clinical Genetics, 2024, 106 (4), pp.476-482. ⟨10.1111/cge.14571⟩ Article dans une revue hal-04796518v1
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids Justine Guguin,Ting-Yu Chen,Silvestre Cuinat,Alicia Besson,Eloïse Bertiauxet al. PLoS Genetics, 2024, 20 (12), pp.e1011517. ⟨10.1371/journal.pgen.1011517⟩ Article dans une revue hal-04884707v1
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish Deepak Khatri,Audrey Putoux,Audric Cologne,Sophie Kaltenbach,Alicia Bessonet al. Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩ Article dans une revue hal-04021151v1
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex Fatimat Almentina Ramos Shidi,Audric Cologne,Marion Delous,Alicia Besson,Audrey Putouxet al. Nucleic Acids Research, 2022, ⟨10.1093/nar/gkac1182⟩ Article dans une revue hal-03913654v1
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation Maximiliano Ribeiro Guerra,Juliette Coignard,Séverine Eon-Marchais,Marie-Gabrielle Dondon,Dorothée Le Galet al. Breast Cancer Research, 2021, 23 (1), pp.79. ⟨10.1186/s13058-021-01456-1⟩ Article dans une revue hal-03985596v1
5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints Sandrine M Caputo,Dominique Telly,Adrien Briaux,Julie Sesen,Maurizio Ceppiet al. Cancers, 2021, 13 (13), pp.3171. ⟨10.3390/cancers13133171⟩ Article dans une revue hal-04808437v1
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants Gorka Ruiz de Garibay,Ignacio Fernandez-Garcia,Sylvie Mazoyer,Flavia Leme de Calais,Pietro Ameriet al. Human Mutation, 2021, 42 (11), pp.1488-1502. ⟨10.1002/humu.24276⟩ Article dans une revue hal-04808367v1
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation Maximiliano Ribeiro Guerra,Juliette Coignard,Séverine Eon-Marchais,Marie-Gabrielle Dondon,Dorothée Le Galet al. Breast Cancer Research, 2021, 23 (1), ⟨10.1186/s13058-021-01456-1⟩ Article dans une revue hal-03345365v1
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Juliette Coignard,Michael Lush,Jonathan Beesley,Tracy O'Mara,Joe Denniset al. Nature Communications, 2021, 12 (1), pp.1078. ⟨10.1038/s41467-020-20496-3⟩ Article dans une revue hal-03660355v1
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant Inge Lakeman,Alexandra van den Broek,Juliën Vos,Daniel Barnes,Julian Adlardet al. Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩ Article dans une revue hal-03652349v1
Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility Christine Lonjou,Séverine Eon‐marchais,Thérèse Truong,Marie‐gabrielle Dondon,Mojgan Karimiet al. International Journal of Cancer, 2021, 148 (8), pp.1895-1909. ⟨10.1002/ijc.33457⟩ Article dans une revue hal-03345363v1
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene Clara Benoit-Pilven,Alicia Besson,Audrey Putoux,Claire Benetollo,Clément Saccaroet al. PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩ Article dans une revue inserm-02915106v1
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability Laurie-Anne Sapey-Triomphe,Julie Reversat,Gaëtan Lesca,Nicolas Chatron,Marina Bussaet al. Human Genomics, 2020, 14 (1), ⟨10.1186/s40246-020-00281-5⟩ Article dans une revue hal-03095127v1
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients Audric Cologne,Clara Benoit-Pilven,Alicia Besson,Audrey Putoux,Amandine Campan-Fournieret al. RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩ Article dans une revue hal-02305628v1
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing Elodie Girard,Séverine Eon‐marchais,Robert E Olaso,Anne‐laure Renault,Francesca Damiolaet al. International Journal of Cancer, 2019, 144 (8), pp.1962-1974. ⟨10.1002/ijc.31921⟩ Article dans une revue inserm-02438452v1
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort Raphael Leman,Pascaline Gaildrat,Gerald L. Gac,Chandran Ka,Yann Fichouet al. Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩ Article dans une revue hal-01910334v1
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers Fabienne Lesueur,Noura Mebirouk,Yue Jiao,Laure Barjhoux,Muriel Belottiet al. Frontiers in Oncology, 2018, 8, pp.490. ⟨10.3389/fonc.2018.00490⟩ Article dans une revue hal-01926758v1
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer Catherine M. Phelan,Karoline B. Kuchenbaecker,Jonathan Tyrer,Siddhartha Kar,Kate Lawrensonet al. Nature Genetics, 2017, 49 (5), pp.680-691. ⟨10.1038/ng.3826⟩ Article dans une revue hal-01778538v1
GENESIS: a French national resource to study the missing heritability of breast cancer Olga M Sinilnikova,Marie-Gabrielle Dondon,Séverine Eon-Marchais,Francesca Damiola,Laure Barjhouxet al. BMC Cancer, 2016, 16 (1), pp.606 - 606. ⟨10.1186/s12885-015-2028-9⟩ Article dans une revue hal-01662200v1
Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study Amandine Garcia,Monique Buisson,Francesca Damiola,Chloé Tessereau,Laure Barjhouxet al. European Journal of Human Genetics, 2016, 24 (9), pp.1324-1329. ⟨10.1038/ejhg.2015.284⟩ Article dans une revue inserm-01994617v1
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome Audrey Putoux,A. Alqahtani,L. Pinson,A.D.C. Paulussen,J. Michelet al. Clinical Genetics, 2016, 90 (6), pp.550-555. ⟨10.1111/cge.12781⟩ Article dans une revue istex hal-03626085v1
Occurrence of a non deleterious gene conversion event in the BRCA1 gene C. Tessereau,M. Leone,M. Buisson,L. Duret,O. M. Sinilnikovaet al. Genes, Chromosomes & Cancer, 2015, 54, pp.646-52. ⟨10.1002/gcc.22278⟩ Article dans une revue istex hal-02018994v1
Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2 Sophie Blein,Laure Barjhoux,Francesca Damiola,Marie-Gabrielle Dondon,Séverine Eon-Marchaiset al. PLoS ONE, 2015, 10 (9), pp.e0136192. ⟨10.1371/journal.pone.0136192⟩ Article dans une revue inserm-01991386v1
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Paolo Peterlongo,J. Chang-Claude,Kirsten Moysich,Anja Rudolph,Rita Schmutzleret al. Cancer Epidemiology, Biomarkers and Prevention, 2015, 24 (1), pp.308-316. ⟨10.1158/1055-9965.EPI-14-0532⟩ Article dans une revue hal-02192226v1
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing C. Tessereau,Yann Lesecque,N. Monnet,M. Buisson,L. Barjhouxet al. Nucleic Acids Research, 2014, 42 (14), pp.9121-30. ⟨10.1093/nar/gku639⟩ Article dans une revue hal-02045532v1
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Antonis Antoniou,Karoline Kuchenbaecker,Penny Soucy,Jonathan Beesley,Xiaoqing Chenet al. Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩ Article dans une revue inserm-00681614v1
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Ana-Teresa Maia,Antonis Antoniou,Martin O'Reilly,Shamith Samarajiwa,Mark Dunninget al. Breast Cancer Research, 2012, 14 (2), pp.R63. ⟨10.1186/bcr3169⟩ Article dans une revue inserm-00698626v1
Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers S. J. Ramus,A. C. Antoniou,K. B. Kuchenbaecker,P. Soucy,J. Beesleyet al. Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩ Article dans une revue hal-02282826v1
BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy. Olga Anczuków,Monique Buisson,Mélanie Léoné,Christine Coutanson,Christine Lassetet al. Clinical Cancer Research, 2012, 18 (18), pp.4903-9. ⟨10.1158/1078-0432.CCR-12-1100⟩ Article dans une revue hal-00851244v1
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers A.B. Spurdle,L. Marquart,L. Mcguffog,Sue Healey,F. Wanet al. Cancer Epidemiology, Biomarkers and Prevention, 2011, 20 (5), pp.1032-1038. ⟨10.1158/1055-9965.EPI-10-0909⟩ Article dans une revue hal-00698405v1
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. David G Cox,Jacques Simard,Daniel Sinnett,Yosr Hamdi,Penny Soucyet al. Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩ Article dans une revue hal-00790211v1
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,Etienne Rouleauet al. EMBO Molecular Medicine, 2011, 3 (5), pp.279-90. ⟨10.1002/emmm.201100136⟩ Article dans une revue hal-00814005v1
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Antonis C Antoniou,Christiana Kartsonaki,Olga M Sinilnikova,Penny Soucy,Lesley Mcguffoget al. Human Molecular Genetics, 2011, 20 (16), pp.3304-21. ⟨10.1093/hmg/ddr226⟩ Article dans une revue hal-00771696v1
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. Christopher A. Maxwell,Javier Benítez,Laia Gómez-Baldó,Ana Osorio,Núria Bonifaciet al. PLoS Biology, 2011, 9 (11), pp.e1001199. ⟨10.1371/journal.pbio.1001199⟩ Article dans une revue inserm-00706872v1
The rs2910164:G&gt;C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Amandine I Garcia,David G Cox,Laure Barjhoux,Carole Verny-Pierre,Daniel Barneset al. Human Mutation, 2011, epub ahead of print. ⟨10.1002/humu.21539⟩ Article dans une revue istex hal-00813129v1
Correlation between dynamical heterogeneities, structure and potential-energy distribution in a 2D amorphous solid. Sylvie Mazoyer,F. Ebert,G. Maret,P. Keim European Physical Journal E: Soft matter and biological physics, 2011, 34 (9), pp.101. ⟨10.1140/epje/i2011-11101-1⟩ Article dans une revue istex hal-00850820v1
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers S.J. Ramus,C. Kartsonaki,S.A. Gayther,P. Pharoah P.D.,O.M. Sinilnikovaet al. JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩ Article dans une revue hal-00698417v1
Exploring the link between MORF4L1 and risk of breast cancer. Griselda Martrat,Christopher Maxwell,Emiko Tominaga,Montserrat Porta-De-La-Riva,Núria Bonifaciet al. Breast Cancer Research, 2011, 13 (2), pp.R40. ⟨10.1186/bcr2862⟩ Article dans une revue inserm-00622815v1
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Anna Marie Mulligan,Fergus Couch,Daniel Barrowdale,Susan Domchek,Diana Eccleset al. Breast Cancer Research, 2011, 13 (6), pp.R110. ⟨10.1186/bcr3052⟩ Article dans une revue inserm-00670601v1
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 A. Antoniou,X. Wang,Z. Fredericksen,L. Mcguffog,R. Tarrellet al. Nature Genetics, 2010, 42 (10), pp.885-895. ⟨10.1038/ng.669⟩ Article dans une revue hal-02305040v1
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Logan Walker,Zachary Fredericksen,Xianshu Wang,Robert Tarrell,Vernon Pankratzet al. Breast Cancer Research, 2010, 12 (6), pp.R102. ⟨10.1186/bcr2785⟩ Article dans une revue inserm-00622882v1
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues Ab Zetoune,S. Fontaniere,Delphine Lutringer-Magnin,O. Anczukow,M. Buissonet al. BMC Genetics, 2008, 9, pp.83. ⟨10.1186/1471-2156-9-83⟩ Article dans une revue hal-02307235v1
The contribution of germline rearrangements to the spectrum of &lt;i&gt;BRCA2&lt;/i&gt; mutations F. Casilli,I. Tournier,O.M. Sinilnikova,F. Coulet,F. Soubrieret al. Journal of Medical Genetics, 2006, 43, pp.e49-e49 Article dans une revue hal-00427914v1
Breast cancer risk in &lt;i&gt;BRCA1&lt;/i&gt; and &lt;i&gt;BRCA2&lt;/i&gt; mutation carriers and polyglutamine repeat length in the &lt;i&gt;AIB1&lt;/i&gt; gene D.J. Hughes,S.M. Ginolhac,I. Coupier,L. Barjhoux,V. Gaborieauet al. International Journal of Cancer, 2005, 117, pp.230-233 Article dans une revue hal-00427858v1
Common &lt;i&gt;BRCA2&lt;/i&gt; Variants and Modification of Breast and Ovarian Cancer Risk in &lt;i&gt;BRCA1&lt;/i&gt; Mutation Carriers D.J. Hughes,S.M. Ginolhac,I. Coupier,M. Corbex,B. Bressac-De-Pailleretset al. Cancer Epidemiology, Biomarkers and Prevention, 2005, 14, pp.265-267 Article dans une revue hal-00427856v1
Significant contribution of germline BRCA2 rearrangements in male breast cancer families I. Tournier,Brigitte Bressac-de Paillerets,H. Sobol,Dominique Stoppa-Lyonnet,R. Lidereauet al. Cancer Research, 2004, 64, pp.8143-8147 Article dans une revue hal-00427664v1
Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families Isabelle Tournier,Brigitte Bressac-De Paillerets,Hagay Sobol,Dominique Stoppa-Lyonnet,Rosette Lidereauet al. Cancer Research, 2004, 64 (22), pp.8143-8147. ⟨10.1158/0008-5472.CAN-04-2467⟩ Article dans une revue hal-02375918v1
&lt;i&gt;BRCA1&lt;/i&gt; wild-type allele modifies risk of ovarian cancer in carriers of &lt;i&gt;BRCA1&lt;/i&gt; germ-line mutations S.M. Ginolhac,S. Gad,M. Corbex,B. Bressac-De-Paillerets,A. Chompretet al. Cancer Epidemiology, Biomarkers and Prevention, 2003, 2, pp.90-95 Article dans une revue hal-00427429v1
Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. S. Mazoyer,P. Lalle,C. Moyret-Lalle,C. Marcais,S. Schraubet al. Oncogene, 1994, 9, pp.1237-1239 Article dans une revue hal-00314454v1
[Hereditary predisposition for cancer of the breast and the ovary] P. Lalle,Dominique Stoppa-Lyonnet,S. Mazoyer,P. Rio,C. Girodetet al. Bulletin du Cancer, 1993, 80, pp.857-865 Article dans une revue hal-00314456v1
Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers. S. Mazoyer,P. Lalle,Sa Narod,Yj Bignon,F. Courjalet al. American Journal of Human Genetics, 1993, 52, pp.754-760 Article dans une revue hal-00314458v1
Screening of inherited breast cancer with DNA markers. P. Lalle,Yj Bignon,Dominique Stoppa-Lyonnet,Sa Narod,S. Mazoyeret al. The Lancet, 1993, 341, pp.1422-1422 Article dans une revue hal-00313143v1