BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy by ANCZUKOW, Olga, BUISSON, Monique, LEONE, Melanie, COUTANSON, Christine, LASSET, Christine, CALENDER, Alain, SINILNIKOVA, Olga M, MAZOYER, Sylvie

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System by Tubeuf, Hélène, Caputo, Sandrine M, Sullivan, Teresa, Rondeaux, Julie, Krieger, Sophie, Caux-Moncoutier, Virginie, Hauchard, Julie, Castelain, Gaia, Fiévet, Alice, Meulemans, Laëtitia, Révillion, Françoise, Léoné, Mélanie, Boutry-Kryza, Nadia, Delnatte, Capucine, Guillaud-Bataille, Marine, Cleveland, Linda, Reid, Susan, Southon, Eileen, Soukarieh, Omar, Drouet, Aurélie, Di Giacomo, Daniela, Vezain, Myriam, Bonnet-Dorion, Françoise, Bourdon, Violaine, Larbre, Hélène, Muller, Danièle, Pujol, Pascal, Vaz, Fátima, Audebert-Bellanger, Séverine, Colas, Chrystelle, Venat-Bouvet, Laurence, Solano, Angela R, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Gaildrat, Pascaline, Sharan, Shyam K, Martins, Alexandra

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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease by Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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Occurrence of a non deleterious gene conversion event in the BRCA1 gene by Tessereau, Chloé, Léoné, Mélanie, Buisson, Monique, Duret, Laurent, Sinilnikova, Olga M., Mazoyer, Sylvie

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Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 by Meulemans, Laëtitia, Mesman, Romy L S, Caputo, Sandrine M, Krieger, Sophie, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Léone, Mélanie, Boutry-Kryza, Nadia, Sokolowska, Johanna, Révillion, Françoise, Delnatte, Capucine, Tubeuf, Hélène, Soukarieh, Omar, Bonnet-Dorion, Françoise, Guibert, Virginie, Bronner, Myriam, Bourdon, Violaine, Lizard, Sarab, Vilquin, Paul, Privat, Maud, Drouet, Aurélie, Grout, Charlotte, Calléja, Fabienne M G R, Golmard, Lisa, Vrieling, Harry, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Vreeswijk, Maaike P G, Martins, Alexandra, Gaildrat, Pascaline

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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 by Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, 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, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population‐based study by de Sanjosé, Silvia, Léoné, Mélanie, Bérez, Victoria, Izquierdo, Angel, Font, Rebeca, Brunet, Joan M., Louat, Thierry, Vilardell, Loreto, Borras, Joan, Viladiu, Pau, Bosch, F. Xavier, Lenoir, Gilbert M., Sinilnikova, Olga M.

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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 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, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Acetyl-CoA carboxylase α gene and breast cancer susceptibility by Sinilnikova, Olga M., Ginolhac, Sophie M., Magnard, Clémence, Léoné, Mélanie, Anczukow, Olga, Hughes, David, Moreau, Karen, Thompson, Deborah, Coutanson, Christine, Hall, Janet, Romestaing, Pascale, Gérard, Jean-Pierre, Bonadona, Valérie, Lasset, Christine, Goldgar, David E., Joulin, Virginie, Venezia, Nicole Dalla, Lenoir, Gilbert M.

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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer by Caputo, Sandrine M, Léone, Mélanie, Damiola, Francesca, Ehlen, Asa, Carreira, Aura, Gaidrat, Pascaline, Martins, Alexandra, Brandão, Rita D, Peixoto, Ana, Vega, Ana, Houdayer, Claude, Delnatte, Capucine, Bronner, Myriam, Muller, Danièle, Castera, Laurent, Guillaud-Bataille, Marine, Søkilde, Inge, Uhrhammer, Nancy, Demontety, Sophie, Tubeuf, Hélène, Castelain, Gaïa, Jensen, Uffe Birk, Petitalot, Ambre, Krieger, Sophie, Lefol, Cédrick, Moncoutier, Virginie, Boutry-Kryza, Nadia, Nielsen, Henriette Roed, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Spurdle, Amanda B, Teixeira, Manuel R, Coulet, Florence, Thomassen, Mads, Rouleau, Etienne

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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 by Lesueur, Fabienne, Mebirouk, Noura, Jiao, Yue, Barjhoux, Laure, Belotti, Muriel, Laurent, Maïté, Léone, Mélanie, Houdayer, Claude, Bressac-de Paillerets, Brigitte, Vaur, Dominique, Sobol, Hagay, Noguès, Catherine, Longy, Michel, Mortemousque, Isabelle, Fert-Ferrer, Sandra, Mouret-Fourme, Emmanuelle, Pujol, Pascal, Venat-Bouvet, Laurence, Bignon, Yves-Jean, Leroux, Dominique, Coupier, Isabelle, Berthet, Pascaline, Mari, Véronique, Delnatte, Capucine, Gesta, Paul, Collonge-Rame, Marie-Agnès, Giraud, Sophie, Bonadona, Valérie, Baurand, Amandine, Faivre, Laurence, Buecher, Bruno, Lasset, Christine, Gauthier-Villars, Marion, Damiola, Francesca, Mazoyer, Sylvie, Caputo, Sandrine M, Andrieu, Nadine, Stoppa-Lyonnet, Dominique

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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 by Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, 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, Paillerets, Brigitte Bressac-de, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Occurrence of a non deleterious gene conversion event in the BRCA 1 gene by Tessereau, Chloé, Léoné, Mélanie, Buisson, Monique, Duret, Laurent, Sinilnikova, Olga M., Mazoyer, Sylvie

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Acetyl-CoA carboxylase a gene and breast cancer susceptibility by SINILNIKOVA, Olga M, GINOLHAC, Sophie M, ROMESTAING, Pascale, GERARD, Jean-Pierre, BONADONA, Valéric, LASSET, Christine, GOLDGAR, David E, JOULIN, Virginie, VENEZIA, Nicole Dalla, LENOIR, Gilbert M, MAGNARD, Clémence, LEONE, Mélanie, ANCZUKOW, Olga, HUGHES, David, MOREAU, Karen, THOMPSON, Deborah, COUTANSON, Christine, HALL, Janet

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Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer by Bouras, Ahmed, Lafaye, Cyril, Leone, Melanie, Kherraf, Zine-Eddine, Martin-Denavit, Tanguy, Fert-Ferrer, Sandra, Calender, Alain, Boutry-Kryza, Nadia

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Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort by Bouras, Ahmed, Guidara, Souhir, Leone, Mélanie, Buisson, Adrien, Martin-Denavit, Tanguy, Dussart, Sophie, Lasset, Christine, Giraud, Sophie, Bonnet-Dupeyron, Marie-Noëlle, Kherraf, Zine-Eddine, Sanlaville, Damien, Fert-Ferrer, Sandra, Lebrun, Marine, Bonadona, Valerie, Calender, Alain, Boutry-Kryza, Nadia

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing 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

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A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers by Ding, Yuan C., McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Shani-Shimon–Paluch, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Håkan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Cajal, Teresa Ramóny, Stavropoulou, Alexandra V, Benítez, Javier, Hamann, Ute, Rookus, Matti, Aalfs, Cora M., de Lange, Judith L., Meijers-Heijboer, Hanne E.J., Oosterwijk, Jan C., van Asperen, Christi J., García, Encarna B. Gómez, Hoogerbrugge, Nicoline, Jager, Agnes, van der Luijt, Rob B., Easton, Douglas F., Peock, Susan, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Evans, D. Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Brewer, Carole, Tischkowitz, Marc, Godwin, Andrew K., Pathak, Harsh, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Barjhoux, Laure, Léoné, Mélanie, Gauthier-Villars, Marion, Caux-Moncoutier, Virginie, de Pauw, Antoine, Hardouin, Agnès, Berthet, Pascaline, Dreyfus, Hélène, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Sokolowska, Johanna, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Maria, Muy-Kheng Tea, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Hansen, Thomas v. O., Ejlertsen, Bent, Johannsson, Oskar Th, Offit, Kenneth, Sarrel, Kara, Gaudet, Mia M., Vijai, Joseph, Robson, Mark, Piedmonte, Marion R, Andrews, Lesley, Cohn, David, DeMars, Leslie R.

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers by Coignard, Juliette, Dennis, Joe, Tyrer, Jonathan P., McGuffog, Lesley, Bolla, Manjeet K., Adank, Muriel A., Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Baynes, Caroline, Becher, Heiko, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Brenner, Hermann, Buys, Saundra S., Caligo, Maria A., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Collée, J. Margriet, Czene, Kamila, Devilee, Peter, Dwek, Miriam, Evans, D. Gareth, Flyger, Henrik, Fostira, Florentia, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gehrig, Andrea, Giles, Graham G., Goldgar, David E., Guénel, Pascal, Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hulick, Peter J., Hunter, David J., Jager, Agnes, Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Kiiski, Johanna I., Kraft, Peter, Lambrechts, Diether, Lesueur, Fabienne, Lindstrom, Tricia, Mannermaa, Arto, Meindl, Alfons, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, O’Brien, Katie M., Olsson, Håkan, Ottini, Laura, Park-Simon, Tjoung-Won, Pedersen, Inge Sokilde, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Polley, Eric C., Pujana, Miquel Angel, Punie, Kevin, Rashid, Muhammad U., Rennert, Gad, Saloustros, Emmanouil, Santella, Regina, Scheuner, Maren T., Schmidt, Gunnar, Scott, Christopher, Swerdlow, Anthony, Tamimi, Rulla M., Taylor, Jack A., Thull, Darcy L., Tung, Nadine, Vachon, Celine M., Vega, Ana, Wang, Qin, Wendt, Camilla, Yang, Xiaohong R., Ziogas, Argyrios, Park, Sue K., Thomassen, Mads, Simard, Jacques, Chenevix-Trench, Georgia

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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus by Li, Qiyuan, Andrulis, Irene L., Arndt, Volker, Arver, Brita, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Bisogna, Maria, Bogdanova, Natalia, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bruinsma, Fiona, Buhari, Shaik Ahmad, Burwinkel, Barbara, Campbell, Ian, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Czene, Kamila, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, Dumont, Martine, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Goldgar, David E., González-Neira, Anna, Goodman, Marc T., Guénel, Pascal, Haiman, Christopher A., Hallberg, Emily, Hartman, Mikael, Healey, Sue, Heitz, Florian, Høgdall, Estrid, Hogervorst, Frans B. L., Huzarski, Tomasz, Imyanitov, Evgeny N., John, Esther M., Kapuscinski, Miroslav, Karlan, Beth Y., Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kupryjanczyk, Jolanta, de la Hoya, Miguel, Lambrechts, Diether, De Leeneer, Kim, Li, Jingmei, Lubinski, Jan, Margolin, Sara, McGuffog, Lesley, McNeish, Iain, Meindl, Alfons, Mulligan, Anna Marie, Ness, Roberta B., Neuhausen, Susan L., Odunsi, Kunle, Olah, Edith, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Poole, Elizabeth M., Rantala, Johanna, Risch, Harvey A., Sangrajrang, Suleeporn, Schildkraut, Joellen M., Schmidt, Marjanka K., Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Southey, Melissa C., Stenmark-Askmalm, Marie, Tihomirova, Laima, Tung, Nadine, van Doorn, Helena C., Van't Veer, Laura J., Wentzensen, Nicolas, Wildiers, Hans, Zheng, Wei, Simard, Jacques, Pharoah, Paul D., Chenevix-Trench, Georgia

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