Works by Bressac-de-Paillerets, Brigitte

Results: 36
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    The CDKN2A/p16 <sup> INK</sup><sup> 4a</sup> 5′ UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

    Published in:
    Pigment Cell & Melanoma Research, 2016, v. 29, n. 2, p. 210, doi. 10.1111/pcmr.12444
    By:
    • Andreotti, Virginia;
    • Bisio, Alessandra;
    • Bressac ‐ de Paillerets, Brigitte;
    • Harland, Mark;
    • Cabaret, Odile;
    • Newton ‐ Bishop, Julia;
    • Pastorino, Lorenza;
    • Bruno, William;
    • Bertorelli, Roberto;
    • De Sanctis, Veronica;
    • Provenzani, Alessandro;
    • Menin, Chiara;
    • Fronza, Gilberto;
    • Queirolo, Paola;
    • Spitale, Robert C.;
    • Bianchi ‐ Scarrà, Giovanna;
    • Inga, Alberto;
    • Ghiorzo, Paola
    Publication type:
    Article
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    Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas

    Published in:
    Molecular Oncology, 2008, v. 1, n. 4, p. 425, doi. 10.1016/j.molonc.2008.01.002
    By:
    • Kannengiesser, Caroline;
    • Spatz, Alain;
    • Michiels, Stefan;
    • Eychène, Alain;
    • Dessen, Philippe;
    • Lazar, Vladimir;
    • Winnepenninckx, Véronique;
    • Lesueur, Fabienne;
    • Druillennec, Sabine;
    • Robert, Caroline;
    • van den Oord, Joost J.;
    • Sarasin, Alain;
    • Bressac-de Paillerets, Brigitte
    Publication type:
    Article
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    Genome-wide association study identifies three new melanoma susceptibility loci.

    Published in:
    Nature Genetics, 2011, v. 43, n. 11, p. 1108, doi. 10.1038/ng.959
    By:
    • Barrett, Jennifer H;
    • Iles, Mark M;
    • Harland, Mark;
    • Taylor, John C;
    • Aitken, Joanne F;
    • Andresen, Per Arne;
    • Akslen, Lars A;
    • Armstrong, Bruce K;
    • Avril, Marie-Francoise;
    • Azizi, Esther;
    • Bakker, Bert;
    • Bergman, Wilma;
    • Bianchi-Scarrà, Giovanna;
    • Bressac-de Paillerets, Brigitte;
    • Calista, Donato;
    • Cannon-Albright, Lisa A;
    • Corda, Eve;
    • Cust, Anne E;
    • D?bniak, Tadeusz;
    • Duffy, David
    Publication type:
    Article
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    A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.

    Published in:
    2021
    By:
    • Jiao, Yue;
    • Lesueur, Fabienne;
    • Azencott, Chloé-Agathe;
    • Laurent, Maïté;
    • Mebirouk, Noura;
    • Laborde, Lilian;
    • Beauvallet, Juana;
    • Dondon, Marie-Gabrielle;
    • Eon-Marchais, Séverine;
    • Laugé, Anthony;
    • GEMO Study Collaborators;
    • Boutry-Kryza, Nadia;
    • Calender, Alain;
    • Giraud, Sophie;
    • Léone, Mélanie;
    • Bressac-de-Paillerets, Brigitte;
    • Caron, Olivier;
    • Guillaud-Bataille, Marine;
    • Bignon, Yves-Jean;
    • Uhrhammer, Nancy
    Publication type:
    journal article
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    Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.

    Published in:
    International Journal of Oncology, 2018, v. 53, n. 4, p. 1455, doi. 10.3892/ijo.2018.4490
    By:
    • Gattolliat, Charles-Henry;
    • Couvé, Sophie;
    • Meurice, Guillaume;
    • Oréar, Cédric;
    • Droin, Nathalie;
    • Chiquet, Mathieu;
    • Ferlicot, Sophie;
    • Verkarre, Virginie;
    • Vasiliu, Viorel;
    • Molinié, Vincent;
    • Méjean, Arnaud;
    • Dessen, Philippe;
    • Giraud, Sophie;
    • Bressac-De-Paillerets, Brigitte;
    • Gardie, Betty;
    • Teh, Bin Tean;
    • Richard, Stéphane;
    • Gad, Sophie
    Publication type:
    Article
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    Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 482, doi. 10.1038/ng.2941
    By:
    • Shi, Jianxin;
    • Yang, Xiaohong R;
    • Ballew, Bari;
    • Rotunno, Melissa;
    • Calista, Donato;
    • Fargnoli, Maria Concetta;
    • Ghiorzo, Paola;
    • Bressac-de Paillerets, Brigitte;
    • Nagore, Eduardo;
    • Avril, Marie Francoise;
    • Caporaso, Neil E;
    • McMaster, Mary L;
    • Cullen, Michael;
    • Wang, Zhaoming;
    • Zhang, Xijun;
    • Bruno, William;
    • Pastorino, Lorenza;
    • Queirolo, Paola;
    • Banuls-Roca, Jose;
    • Garcia-Casado, Zaida
    Publication type:
    Article
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    Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.

    Published in:
    International Journal of Cancer, 2005, v. 117, n. 2, p. 230, doi. 10.1002/ijc.21176
    By:
    • Hughes, David J.;
    • Ginolhac, Sophie M.;
    • Coupier, Isabelle;
    • Barjhoux, Laure;
    • Gaborieau, Valérie;
    • Bressac-de-Paillerets, Brigitte;
    • Chompret, Agnès;
    • Bignon, Yves-Jean;
    • Uhrhammer, Nancy;
    • Lasset, Christine;
    • Giraud, Sophie;
    • Sobol, Hagay;
    • Hardouin, Agnès;
    • Berthet, Pascaline;
    • Peyrat, Jean-Philippe;
    • Fournier, Joelle;
    • Nogues, Catherine;
    • Lidereau, Rosette;
    • Muller, Danièle;
    • Fricker, Jean-Pierre
    Publication type:
    Article
    12

    Cancer risk in heterozygotes for ataxia-telangiectasia.

    Published in:
    International Journal of Cancer, 2001, v. 93, n. 2, p. 288, doi. 10.1002/ijc.1329
    By:
    • Geoffroy-Perez, Béatrice;
    • Janin, Nicolas;
    • Ossian, Katia;
    • Laugé, Anthony;
    • Croquette, Marie-Françoise;
    • Griscelli, Claude;
    • Debré, Marianne;
    • Bressac-de-Paillerets, Brigitte;
    • Aurias, Alain;
    • Stoppa-Lyonnet, Dominique;
    • Andrieu, Nadine
    Publication type:
    Article
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    New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

    Published in:
    Genes, Chromosomes & Cancer, 2007, v. 46, n. 8, p. 751, doi. 10.1002/gcc.20461
    By:
    • Kannengiesser, Caroline;
    • Dalle, Stéphane;
    • Leccia, Marie-Thérèse;
    • Avril, Marie Françoise;
    • Bonadona, Valerie;
    • Chompret, Agnès;
    • Lasset, Christine;
    • Leroux, Dominique;
    • Thomas, Luc;
    • Lesueur, Fabienne;
    • Lenoir, Gilbert;
    • Sarasin, Alain;
    • Bressac-de Paillerets, Brigitte
    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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    Diversity of the clinical presentation of the MMR gene biallelic mutations.

    Published in:
    Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
    By:
    • Bougeard, Gaëlle;
    • Olivier-Faivre, Laurence;
    • Baert-Desurmont, Stéphanie;
    • Tinat, Julie;
    • Martin, Cosette;
    • Bouvignies, Emilie;
    • Vasseur, Stéphanie;
    • Huet, Frédéric;
    • Couillault, Gérard;
    • Vabres, Pierre;
    • Le Pessot, Florence;
    • Chapusot, Caroline;
    • Malka, David;
    • Bressac-de Paillerets, Brigitte;
    • Tosi, Mario;
    • Frebourg, Thierry
    Publication type:
    Article
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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.

    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
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    Melanoma Risk and Melanocyte Biology.

    Published in:
    Acta Dermato-Venereologica, 2020, v. 100, p. 272, doi. 10.2340/00015555-3494
    By:
    • BERTRAND, Juliette U.;
    • STEINGRIMSSON, Eirikur;
    • JOUENNE, Fanélie;
    • BRESSAC-DE PAILLERETS, Brigitte;
    • LARUE, Lionel
    Publication type:
    Article
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    Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 22, p. 12460, doi. 10.3390/ijms252212460
    By:
    • Helbling-Leclerc, Anne;
    • Falampin, Marie;
    • Heddar, Abdelkader;
    • Guerrini-Rousseau, Léa;
    • Marchand, Maud;
    • Cavadias, Iphigenie;
    • Auger, Nathalie;
    • Bressac-de Paillerets, Brigitte;
    • Brugieres, Laurence;
    • Lopez, Bernard S.;
    • Polak, Michel;
    • Rosselli, Filippo;
    • Misrahi, Micheline
    Publication type:
    Article
    28

    PARKIN Inactivation Links Parkinson's Disease to Melanoma.

    Published in:
    2016
    By:
    • Hui-Han Hu;
    • Kannengiesser, Caroline;
    • Lesage, Suzanne;
    • André, Jocelyne;
    • Mourah, Samia;
    • Michel, Laurence;
    • Descamps, Vincent;
    • Basset-Seguin, Nicole;
    • Bagot, Martine;
    • Bensussan, Armand;
    • Lebbé, Céleste;
    • Deschamps, Lydia;
    • Saiag, Philippe;
    • Leccia, Marie-Thérèse;
    • Bressac-de-Paillerets, Brigitte;
    • Tsalamlal, Amel;
    • Kumar, Rajiv;
    • Klebe, Stephan;
    • Grandchamp, Bernard;
    • Andrieu-Abadie, Nathalie
    Publication type:
    journal article
    29

    Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.

    Published in:
    2019
    By:
    • Wong, Kim;
    • Robles-Espinoza, Carla Daniela;
    • Rodriguez, David;
    • Rudat, Saskia S.;
    • Puig, Susana;
    • Potrony, Miriam;
    • Wong, Chi C.;
    • Hewinson, James;
    • Aguilera, Paula;
    • Puig-Butille, Joan Anton;
    • Bressac-de Paillerets, Brigitte;
    • Zattara, Hélène;
    • van der Weyden, Louise;
    • Fletcher, Christopher D. M.;
    • Brenn, Thomas;
    • Arends, Mark J.;
    • Quesada, Víctor;
    • Newton-Bishop, Julia A.;
    • Lopez-Otin, Carlos;
    • Bishop, D. Timothy
    Publication type:
    journal article
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    Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

    Published in:
    Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313
    By:
    • Sebai, Molka;
    • Tulasne, David;
    • Caputo, Sandrine M.;
    • Verkarre, Virginie;
    • Fernandes, Marie;
    • Guérin, Célia;
    • Reinhart, Fanny;
    • Adams, Séverine;
    • Maugard, Christine;
    • Caron, Olivier;
    • Guillaud‐Bataille, Marine;
    • Berthet, Pascaline;
    • Bignon, Yves‐Jean;
    • Bressac‐de Paillerets, Brigitte;
    • Burnichon, Nelly;
    • Chiesa, Jean;
    • Giraud, Sophie;
    • Lejeune, Sophie;
    • Limacher, Jean‐Marc;
    • de Pauw, Antoine
    Publication type:
    Article
    33

    Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors.

    Published in:
    Human Mutation, 2014, v. 35, n. 3, p. 294, doi. 10.1002/humu.22489
    By:
    • Tournier, Isabelle;
    • Marlin, Régine;
    • Walton, Kelly;
    • Charbonnier, Françoise;
    • Coutant, Sophie;
    • Théry, Jean‐Christophe;
    • Charbonnier, Camille;
    • Spurrell, Cailyn;
    • Vezain, Myriam;
    • Ippolito, Lorena;
    • Bougeard, Gaëlle;
    • Roman, Horace;
    • Tinat, Julie;
    • Sabourin, Jean‐Christophe;
    • Stoppa‐Lyonnet, Dominique;
    • Caron, Olivier;
    • Bressac‐de Paillerets, Brigitte;
    • Vaur, Dominique;
    • King, Mary‐Claire;
    • Harrison, Craig
    Publication type:
    Article
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    Geographical variation in the penetrance of CDKN2A mutations for melanoma.

    Published in:
    2002
    By:
    • Bishop, D. Timothy;
    • Demenais, Florence;
    • Goldstein, Alisa M.;
    • Bergman, Wilma;
    • Bishop, Julia Newton;
    • Bressac-de Paillerets, Brigitte;
    • Chompret, Agnès;
    • Ghiorzo, Paola;
    • Gruis, Nelleke;
    • Hansson, Johan;
    • Harland, Mark;
    • Hayward, Nicholas;
    • Holland, Elizabeth A.;
    • Mann, Graham J.;
    • Mantelli, Michela;
    • Nancarrow, Derek;
    • Platz, Anton;
    • Tucker, Margaret A.;
    • Chompret, Agnès;
    • Melanoma Genetics Consortium
    Publication type:
    journal article