Sylvie Mazoyer

Chercheuse Inserm
75%
Libre accès
53
Documents
Affiliations actuelles
  • Genetics of Neurodevelopment (CRNL-GENDEV)
  • Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL)
Identifiants chercheurs
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Publications

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B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI

Lucas W Gauthier , Morgane Gossez , Christophe Malcus , Sébastien Viel , Guillaume Monneret et al.
Clinical Genetics, 2024, 106 (4), pp.476-482. ⟨10.1111/cge.14571⟩
Article dans une revue hal-04796518 v1
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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 Bertiaux et al.
PLoS Genetics, 2024, 20 (12), pp.e1011517. ⟨10.1371/journal.pgen.1011517⟩
Article dans une revue hal-04884707 v1
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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 Besson et 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-04021151 v1
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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 Putoux et al.
Nucleic Acids Research, 2022, ⟨10.1093/nar/gkac1182⟩
Article dans une revue hal-03913654 v1
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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 Karimi et al.
International Journal of Cancer, 2021, 148 (8), pp.1895-1909. ⟨10.1002/ijc.33457⟩
Article dans une revue hal-03345363 v1

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 Gal et al.
Breast Cancer Research, 2021, 23 (1), pp.79. ⟨10.1186/s13058-021-01456-1⟩
Article dans une revue hal-03985596 v1
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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 Ceppi et al.
Cancers, 2021, 13 (13), pp.3171. ⟨10.3390/cancers13133171⟩
Article dans une revue hal-04808437 v1
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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 Ameri et al.
Human Mutation, 2021, 42 (11), pp.1488-1502. ⟨10.1002/humu.24276⟩
Article dans une revue hal-04808367 v1
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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 Gal et al.
Breast Cancer Research, 2021, 23 (1), ⟨10.1186/s13058-021-01456-1⟩
Article dans une revue hal-03345365 v1
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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 Dennis et al.
Nature Communications, 2021, 12 (1), pp.1078. ⟨10.1038/s41467-020-20496-3⟩
Article dans une revue hal-03660355 v1
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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 Adlard et al.
Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩
Article dans une revue hal-03652349 v1
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Claire Benetollo , Clément Saccaro et al.
PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
Article dans une revue inserm-02915106 v1
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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 Bussa et al.
Human Genomics, 2020, 14 (1), ⟨10.1186/s40246-020-00281-5⟩
Article dans une revue hal-03095127 v1
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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-Fournier et al.
RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩
Article dans une revue hal-02305628 v1
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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 Damiola et al.
International Journal of Cancer, 2019, 144 (8), pp.1962-1974. ⟨10.1002/ijc.31921⟩
Article dans une revue inserm-02438452 v1

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 Olaso , Anne‐laure Renault , Francesca Damiola et al.
International Journal of Cancer, 2019, 144 (8), pp.1962-1974. ⟨10.1002/ijc.31921⟩
Article dans une revue hal-03985549 v1
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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 Belotti et al.
Frontiers in Oncology, 2018, 8, pp.490. ⟨10.3389/fonc.2018.00490⟩
Article dans une revue hal-01926758 v1
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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 Fichou et al.
Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩
Article dans une revue hal-01910334 v1
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M. Phelan , Karoline B. Kuchenbaecker , Jonathan Tyrer , Siddhartha Kar , Kate Lawrenson et al.
Nature Genetics, 2017, 49 (5), pp.680-691. ⟨10.1038/ng.3826⟩
Article dans une revue hal-01778538 v1
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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Audrey Putoux , A. Alqahtani , L. Pinson , A.D.C. Paulussen , J. Michel et al.
Clinical Genetics, 2016, 90 (6), pp.550-555. ⟨10.1111/cge.12781⟩
Article dans une revue istex hal-03626085 v1
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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 Barjhoux et al.
BMC Cancer, 2016, 16 (1), pp.606 - 606. ⟨10.1186/s12885-015-2028-9⟩
Article dans une revue hal-01662200 v1
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Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

Amandine Garcia , Monique Buisson , Francesca Damiola , Chloé Tessereau , Laure Barjhoux et al.
European Journal of Human Genetics, 2016, 24 (9), pp.1324-1329. ⟨10.1038/ejhg.2015.284⟩
Article dans une revue inserm-01994617 v1

Occurrence of a non deleterious gene conversion event in the BRCA1 gene

C. Tessereau , M. Leone , M. Buisson , L. Duret , O. M. Sinilnikova et al.
Genes, Chromosomes & Cancer, 2015, 54, pp.646-52. ⟨10.1002/gcc.22278⟩
Article dans une revue istex hal-02018994 v1
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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-Marchais et al.
PLoS ONE, 2015, 10 (9), pp.e0136192. ⟨10.1371/journal.pone.0136192⟩
Article dans une revue inserm-01991386 v1

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 Schmutzler et al.
Cancer Epidemiology, Biomarkers and Prevention, 2015, 24 (1), pp.308-316. ⟨10.1158/1055-9965.EPI-14-0532⟩
Article dans une revue hal-02192226 v1
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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

C. Tessereau , Yann Lesecque , N. Monnet , M. Buisson , L. Barjhoux et al.
Nucleic Acids Research, 2014, 42 (14), pp.9121-30. ⟨10.1093/nar/gku639⟩
Article dans une revue hal-02045532 v1
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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 Chen et al.
Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩
Article dans une revue inserm-00681614 v1
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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 Dunning et al.
Breast Cancer Research, 2012, 14 (2), pp.R63. ⟨10.1186/bcr3169⟩
Article dans une revue inserm-00698626 v1

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. Beesley et al.
Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Article dans une revue hal-02282826 v1

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 Lasset et al.
Clinical Cancer Research, 2012, 18 (18), pp.4903-9. ⟨10.1158/1078-0432.CCR-12-1100⟩
Article dans une revue hal-00851244 v1
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Exploring the link between MORF4L1 and risk of breast cancer.

Griselda Martrat , Christopher Maxwell , Emiko Tominaga , Montserrat Porta-De-La-Riva , Núria Bonifaci et al.
Breast Cancer Research, 2011, 13 (2), pp.R40. ⟨10.1186/bcr2862⟩
Article dans une revue inserm-00622815 v1
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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 Eccles et al.
Breast Cancer Research, 2011, 13 (6), pp.R110. ⟨10.1186/bcr3052⟩
Article dans une revue inserm-00670601 v1

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 Mcguffog et al.
Human Molecular Genetics, 2011, 20 (16), pp.3304-21. ⟨10.1093/hmg/ddr226⟩
Article dans une revue hal-00771696 v1

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 Rouleau et al.
EMBO Molecular Medicine, 2011, 3 (5), pp.279-90. ⟨10.1002/emmm.201100136⟩
Article dans une revue hal-00814005 v1

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. Wan et al.
Cancer Epidemiology, Biomarkers and Prevention, 2011, 20 (5), pp.1032-1038. ⟨10.1158/1055-9965.EPI-10-0909⟩
Article dans une revue hal-00698405 v1

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 Soucy et al.
Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Article dans une revue hal-00790211 v1
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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 Bonifaci et al.
PLoS Biology, 2011, 9 (11), pp.e1001199. ⟨10.1371/journal.pbio.1001199⟩
Article dans une revue inserm-00706872 v1

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 , David G Cox , Laure Barjhoux , Carole Verny-Pierre , Daniel Barnes et al.
Human Mutation, 2011, epub ahead of print. ⟨10.1002/humu.21539⟩
Article dans une revue istex hal-00813129 v1

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-00850820 v1

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. Sinilnikova et al.
JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩
Article dans une revue hal-00698417 v1

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. Tarrell et al.
Nature Genetics, 2010, 42 (10), pp.885-895. ⟨10.1038/ng.669⟩
Article dans une revue hal-02305040 v1
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Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Logan Walker , Zachary Fredericksen , Xianshu Wang , Robert Tarrell , Vernon Pankratz et al.
Breast Cancer Research, 2010, 12 (6), pp.R102. ⟨10.1186/bcr2785⟩
Article dans une revue inserm-00622882 v1

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

Ab Zetoune , S. Fontaniere , Delphine Lutringer-Magnin , O. Anczukow , M. Buisson et al.
BMC Genetics, 2008, 9, pp.83. ⟨10.1186/1471-2156-9-83⟩
Article dans une revue hal-02307235 v1

The contribution of germline rearrangements to the spectrum of <i>BRCA2</i> mutations

F. Casilli , I. Tournier , O.M. Sinilnikova , F. Coulet , F. Soubrier et al.
Journal of Medical Genetics, 2006, 43, pp.e49-e49
Article dans une revue hal-00427914 v1

Breast cancer risk in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers and polyglutamine repeat length in the <i>AIB1</i> gene

D.J. Hughes , S.M. Ginolhac , I. Coupier , L. Barjhoux , V. Gaborieau et al.
International Journal of Cancer, 2005, 117, pp.230-233
Article dans une revue hal-00427858 v1

Common <i>BRCA2</i> Variants and Modification of Breast and Ovarian Cancer Risk in <i>BRCA1</i> Mutation Carriers

D.J. Hughes , S.M. Ginolhac , I. Coupier , M. Corbex , B. Bressac-De-Paillerets et al.
Cancer Epidemiology, Biomarkers and Prevention, 2005, 14, pp.265-267
Article dans une revue hal-00427856 v1

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

I. Tournier , Brigitte Bressac-de Paillerets , H. Sobol , Dominique Stoppa-Lyonnet , R. Lidereau et al.
Cancer Research, 2004, 64, pp.8143-8147
Article dans une revue hal-00427664 v1

Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families

Isabelle Tournier , Brigitte Bressac-De Paillerets , Hagay Sobol , Dominique Stoppa-Lyonnet , Rosette Lidereau et al.
Cancer Research, 2004, 64 (22), pp.8143-8147. ⟨10.1158/0008-5472.CAN-04-2467⟩
Article dans une revue hal-02375918 v1

<i>BRCA1</i> wild-type allele modifies risk of ovarian cancer in carriers of <i>BRCA1</i> germ-line mutations

S.M. Ginolhac , S. Gad , M. Corbex , B. Bressac-De-Paillerets , A. Chompret et al.
Cancer Epidemiology, Biomarkers and Prevention, 2003, 2, pp.90-95
Article dans une revue hal-00427429 v1

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. Schraub et al.
Oncogene, 1994, 9, pp.1237-1239
Article dans une revue hal-00314454 v1

Screening of inherited breast cancer with DNA markers.

P. Lalle , Yj Bignon , Dominique Stoppa-Lyonnet , Sa Narod , S. Mazoyer et al.
The Lancet, 1993, 341, pp.1422-1422
Article dans une revue hal-00313143 v1

Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

S. Mazoyer , P. Lalle , Sa Narod , Yj Bignon , F. Courjal et al.
American Journal of Human Genetics, 1993, 52, pp.754-760
Article dans une revue hal-00314458 v1

[Hereditary predisposition for cancer of the breast and the ovary]

P. Lalle , Dominique Stoppa-Lyonnet , S. Mazoyer , P. Rio , C. Girodet et al.
Bulletin du Cancer, 1993, 80, pp.857-865
Article dans une revue hal-00314456 v1