Works matching AU Mazoyer, Sylvie


Results: 37
    1

    Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

    Published in:
    2012
    By:
    • Antoniou, Antonis Cuno-Buecher-Curie-Net Bmc-Author-Email-Antoine-Depauw-Curie-Net Bmc-Author-Email-Sylvie-Mazoyer-Lyon-Unicancer-Fr Bmc-Author-Email-Carole-Verny-Lyon-Unicancer-Fr Bmc-Author-Email-Melanie-Leone-Lyon-Unicancer-Fr Bmc-Author-Email-Brigitte-Bressac-I;
    • Kuchenbaecker, Karoline Buno-Buecher-Curie-Net Bmc-Author-Email-Antoine-Depauw-Curie-Net Bmc-Author-Email-Sylvie-Mazoyer-Lyon-Unicancer-Fr Bmc-Author-Email-Carole-Verny-Lyon-Unicancer-Fr Bmc-Author-Email-Melanie-Leone-Lyon-Unicancer-Fr Bmc-Author-Email-Brigitte-Bressac-;
    • Soucy, Penny;
    • Beesley, Jonathan;
    • Chen, Xiaoqing;
    • McGuffog, Lesley;
    • Lee, Andrew;
    • Barrowdale, Daniel;
    • Healey, Sue;
    • Sinilnikova, Olga Muno-Buecher-Curie-Net Bmc-Author-Email-Antoine-Depauw-Curie-Net Bmc-Author-Email-Sylvie-Mazoyer-Lyon-Unicancer-Fr Bmc-Author-Email-Carole-Verny-Lyon-Unicancer-Fr Bmc-Author-Email-Melanie-Leone-Lyon-Unicancer-Fr Bmc-Author-Email-Brigitte-Bressac-Igr-;
    • Caligo, Maria Auno-Buecher-Curie-Net Bmc-Author-Email-Antoine-Depauw-Curie-Net Bmc-Author-Email-Sylvie-Mazoyer-Lyon-Unicancer-Fr Bmc-Author-Email-Carole-Verny-Lyon-Unicancer-Fr Bmc-Author-Email-Melanie-Leone-Lyon-Unicancer-Fr Bmc-Author-Email-Brigitte-Bressac-Igr;
    • Loman, Niklas;
    • Harbst, Katja;
    • Lindblom, Annika;
    • Arver, Brita;
    • Rosenquist, Richard;
    • Karlsson, Per;
    • Nathanson, Kate;
    • Domchek, Susan;
    • Rebbeck, Tim
    Publication type:
    journal article
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    B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571
    By:
    • Gauthier, Lucas W.;
    • Gossez, Morgane;
    • Malcus, Christophe;
    • Viel, Sébastien;
    • Monneret, Guillaume;
    • Bordonné, Remy;
    • Pons, Linda;
    • Cabet, Sara;
    • Delous, Marion;
    • Mazoyer, Sylvie;
    • Putoux, Audrey;
    • Edery, Patrick
    Publication type:
    Article
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    Localisation of the breast-ovarian cancer susceptibility gene (BRCAI) on 17q12-21 to an interval of ⩽IcM.

    Published in:
    Genes, Chromosomes & Cancer, 1994, v. 10, n. 1, p. 71, doi. 10.1002/gcc.2870100112
    By:
    • Smith, Simon A.;
    • Dicioccio, Richard A.;
    • Struewing, Jeffery P.;
    • Easton, Douglas F.;
    • Gallion, Holly H.;
    • Albertsen, Hans;
    • Mazoyer, Sylvie;
    • Johansson, Bertil;
    • Steichen-Gersdorf, Elisabeth;
    • Stratton, Mike;
    • Ford, Debbie;
    • Marshall, Gill;
    • White, Raymond L.;
    • Piver, M. Steven;
    • Ponder, Bruce A. J.
    Publication type:
    Article
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    Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family(Communicated by Richard G.H. Cotton)Online Citation: Human Mutation, Mutation in Brief #619 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/619.pdf)

    Published in:
    Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9148
    By:
    • Sophie Gad;
    • Ivan Bièche;
    • Michel Barrois;
    • Federica Casilli;
    • Sabine Pages-Berhouet;
    • Catherine Dehainault;
    • Marion Gauthier-Villars;
    • Aaron Bensimon;
    • Alain Aurias;
    • Rosette Lidereau;
    • Brigitte Bressac-de Paillerets;
    • Mario Tosi;
    • Sylvie Mazoyer
    Publication type:
    Article
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    The BRCA1 exon 13 duplication in the Swedish population.

    Published in:
    Familial Cancer, 2005, v. 4, n. 2, p. 191, doi. 10.1007/s10689-004-7023-2
    By:
    • Barbara Kremeyer;
    • Maria Soller;
    • Kristina Lagerstedt;
    • Paula Maguire;
    • Sylvie Mazoyer;
    • Margareta Nordling;
    • Jan Wahlström;
    • Annika Lindblom
    Publication type:
    Article
    22
    23

    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

    Published in:
    Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
    By:
    • Leman, Raphaël;
    • Gaildrat, Pascaline;
    • Le Gac, Gérald;
    • Ka, Chandran;
    • Fichou, Yann;
    • Audrezet, Marie-Pierre;
    • Caux-Moncoutier, Virginie;
    • Caputo, Sandrine M;
    • Boutry-Kryza, Nadia;
    • Léone, Mélanie;
    • Mazoyer, Sylvie;
    • Bonnet-Dorion, Françoise;
    • Sevenet, Nicolas;
    • Guillaud-Bataille, Marine;
    • Rouleau, Etienne;
    • Bressac-de Paillerets, Brigitte;
    • Wappenschmidt, Barbara;
    • Rossing, Maria;
    • Muller, Danielle;
    • Bourdon, Violaine
    Publication type:
    Article
    24

    Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. 14, p. 9121, doi. 10.1093/nar/gku639
    By:
    • Tessereau, Chloé;
    • Lesecque, Yann;
    • Monnet, Nastasia;
    • Buisson, Monique;
    • Barjhoux, Laure;
    • Léoné, Mélanie;
    • Feng, Bingjian;
    • Goldgar, David E.;
    • Sinilnikova, Olga M.;
    • Mousset, Sylvain;
    • Duret, Laurent;
    • Mazoyer, Sylvie
    Publication type:
    Article
    25

    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.

    Published in:
    Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171
    By:
    • Caputo, Sandrine M.;
    • Telly, Dominique;
    • Briaux, Adrien;
    • Sesen, Julie;
    • Ceppi, Maurizio;
    • Bonnet, Françoise;
    • Bourdon, Violaine;
    • Coulet, Florence;
    • Castera, Laurent;
    • Delnatte, Capucine;
    • Hardouin, Agnès;
    • Mazoyer, Sylvie;
    • Schultz, Inès;
    • Sevenet, Nicolas;
    • Uhrhammer, Nancy;
    • Bonnet, Céline;
    • Tilkin-Mariamé, Anne-Françoise;
    • Houdayer, Claude;
    • Moncoutier, Virginie;
    • Andrieu, Catherine
    Publication type:
    Article
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    Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2.

    Published in:
    PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0136192
    By:
    • Blein, Sophie;
    • Barjhoux, Laure;
    • null, null;
    • Damiola, Francesca;
    • Dondon, Marie-Gabrielle;
    • Eon-Marchais, Séverine;
    • Marcou, Morgane;
    • Caron, Olivier;
    • Lortholary, Alain;
    • Buecher, Bruno;
    • Vennin, Philippe;
    • Berthet, Pascaline;
    • Noguès, Catherine;
    • Lasset, Christine;
    • Gauthier-Villars, Marion;
    • Mazoyer, Sylvie;
    • Stoppa-Lyonnet, Dominique;
    • Andrieu, Nadine;
    • Thomas, Gilles;
    • Sinilnikova, Olga M.
    Publication type:
    Article
    30
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    BRCA1-Dependent Translational Regulation in Breast Cancer Cells.

    Published in:
    PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067313
    By:
    • Dacheux, Estelle;
    • Vincent, Anne;
    • Nazaret, Nicolas;
    • Combet, Christophe;
    • Wierinckx, Anne;
    • Mazoyer, Sylvie;
    • Diaz, Jean-Jacques;
    • Lachuer, Joël;
    • Venezia, Nicole Dalla
    Publication type:
    Article
    32

    Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.

    Published in:
    PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055681
    By:
    • Gracia-Aznarez, Francisco Javier;
    • Fernandez, Victoria;
    • Pita, Guillermo;
    • Peterlongo, Paolo;
    • Dominguez, Orlando;
    • de la Hoya, Miguel;
    • Duran, Mercedes;
    • Osorio, Ana;
    • Moreno, Leticia;
    • Gonzalez-Neira, Anna;
    • Rosa-Rosa, Juan Manuel;
    • Sinilnikova, Olga;
    • Mazoyer, Sylvie;
    • Hopper, John;
    • Lazaro, Conchi;
    • Southey, Melissa;
    • Odefrey, Fabrice;
    • Manoukian, Siranoush;
    • Catucci, Irene;
    • Caldes, Trinidad
    Publication type:
    Article
    33

    Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 11, p. 1488, doi. 10.1002/humu.24276
    By:
    • Ruiz de Garibay, Gorka;
    • Fernandez‐Garcia, Ignacio;
    • Mazoyer, Sylvie;
    • Leme de Calais, Flavia;
    • Ameri, Pietro;
    • Vijayakumar, Sangeetha;
    • Martinez‐Ruiz, Haydeliz;
    • Damiola, Francesca;
    • Barjhoux, Laure;
    • Thomassen, Mads;
    • Andersen, Lars v. B.;
    • Herranz, Carmen;
    • Mateo, Francesca;
    • Palomero, Luis;
    • Espín, Roderic;
    • Gómez, Antonio;
    • García, Nadia;
    • Jimenez, Daniel;
    • Bonifaci, Núria;
    • Extremera, Ana I.
    Publication type:
    Article
    34

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

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101
    By:
    • Houdayer, Claude;
    • Caux-Moncoutier, Virginie;
    • Krieger, Sophie;
    • Barrois, Michel;
    • Bonnet, Françoise;
    • Bourdon, Violaine;
    • Bronner, Myriam;
    • Buisson, Monique;
    • Coulet, Florence;
    • Gaildrat, Pascaline;
    • Lefol, Cédrick;
    • Léone, Mélanie;
    • Mazoyer, Sylvie;
    • Muller, Danielle;
    • Remenieras, Audrey;
    • Révillion, Françoise;
    • Rouleau, Etienne;
    • Sokolowska, Joanna;
    • Vert, Jean-Philippe;
    • Lidereau, Rosette
    Publication type:
    Article
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    Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 14, p. 2886, doi. 10.1093/hmg/ddq174
    By:
    • Wang, Xianshu;
    • Pankratz, V. Shane;
    • Fredericksen, Zachary;
    • Tarrell, Robert;
    • Karaus, Mary;
    • McGuffog, Lesley;
    • Pharaoh, Paul D.P.;
    • Ponder, Bruce A.J.;
    • Dunning, Alison M.;
    • Peock, Susan;
    • Cook, Margaret;
    • Oliver, Clare;
    • Frost, Debra;
    • Sinilnikova, Olga M.;
    • Stoppa-Lyonnet, Dominique;
    • Mazoyer, Sylvie;
    • Houdayer, Claude;
    • Hogervorst, Frans B.L.;
    • Hooning, Maartje J.;
    • Ligtenberg, Marjolijn J.
    Publication type:
    Article
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