Search Results - "Fert‐Ferrer, Sandra"

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer by Leclerc, Julie, Beaumont, Marie, Vibert, Roseline, Pinson, Stéphane, Vermaut, Catherine, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Demay, Christophe, Coulet, Florence, Guillerm, Erell, Hamzaoui, Nadim, Benusiglio, Patrick R., Brahimi, Afane, Cornelis, François, Delhomelle, Hélène, Fert‐Ferrer, Sandra, Fournier, Benjamin P. J., Hovnanian, Alain, Legrand, Clémentine, Lortholary, Alain, Malka, David, Petit, Florence, Saurin, Jean‐Christophe, Lejeune, Sophie, Colas, Chrystelle, Buisine, Marie‐Pierre

“…Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual…”
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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

“…(partner and localizer of ), as indicated by its name, is a -interacting protein that plays an important role in homologous recombination (HR) and DNA…”
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“Double‐hit” chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain by Chapiro, Elise, Lesty, Claude, Gabillaud, Clémentine, Durot, Eric, Bouzy, Simon, Armand, Marine, Le Garff‐Tavernier, Magali, Bougacha, Nadia, Struski, Stéphanie, Bidet, Audrey, Laharanne, Elodie, Barin, Carole, Veronese, Lauren, Prié, Nolwen, Eclache, Virginie, Gaillard, Baptiste, Michaux, Lucienne, Lefebvre, Christine, Gaillard, Jean‐Baptiste, Terré, Christine, Penther, Dominique, Bastard, Christian, Nadal, Nathalie, Fert‐Ferrer, Sandra, Auger, Nathalie, Godon, Catherine, Sutton, Laurent, Tournilhac, Olivier, Susin, Santos A., Nguyen‐Khac, Florence

“…Chronic lymphocytic leukemia (CLL) with 17p deletion (17p‐) is associated with a lack of response to standard treatment and thus the worst possible clinical…”
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14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma by Cosson, Adrien, Chapiro, Elise, Belhouachi, Nabila, Cung, Hong-Anh, Keren, Boris, Damm, Frederik, Algrin, Caroline, Lefebvre, Christine, Fert-Ferrer, Sandra, Luquet, Isabelle, Gachard, Nathalie, Mugneret, Francine, Terre, Christine, Collonge-Rame, Marie-Agnes, Michaux, Lucienne, Rafdord-Weiss, Isabelle, Talmant, Pascaline, Veronese, Lauren, Nadal, Nathalie, Struski, Stephanie, Barin, Carole, Helias, Catherine, Lafage, Marina, Lippert, Eric, Auger, Nathalie, Eclache, Virginie, Roos-Weil, Damien, Leblond, Veronique, Settegrana, Catherine, Maloum, Karim, Davi, Frederic, Merle-Beral, Helene, Lesty, Claude, Nguyen-Khac, Florence

“…Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B‐cell neoplasms, particularly in chronic lymphocytic…”
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Gain of the short arm of chromosome 2 (2p) is a frequent recurring chromosome aberration in untreated chronic lymphocytic leukemia (CLL) at advanced stages by Chapiro, Elise, Leporrier, Nathalie, Radford-Weiss, Isabelle, Bastard, Christian, Mossafa, Hossein, Leroux, Dominique, Tigaud, Isabelle, De Braekeleer, Marc, Terré, Christine, Brizard, Françoise, Callet-Bauchu, Evelyne, Struski, Stéphanie, Veronese, Lauren, Fert-Ferrer, Sandra, Taviaux, Sylvie, Lesty, Claude, Davi, Frédéric, Merle-Béral, Hélène, Bernard, Olivier A, Sutton, Laurent, Raynaud, Sophie D, Nguyen-Khac, Florence

“…Abstract Using array-based CGH, we identified 2p gain in 22/78 (28%) untreated Binet stages B/C CLL, which was the second most frequent copy number change…”
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Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)) by Mircher, Clotilde, Rethore, Marie‐Odile, Lespinasse, James, Fert‐Ferrer, Sandra, Lundsteen, Claes, Kirchoff, Maria

“…A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor…”
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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 by Girard, Elodie, Eon‐Marchais, Séverine, Olaso, Robert, Renault, Anne‐Laure, Damiola, Francesca, Dondon, Marie‐Gabrielle, Barjhoux, Laure, Goidin, Didier, Meyer, Vincent, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Lonjou, Christine, Coignard, Juliette, Marcou, Morgane, Cavaciuti, Eve, Baulard, Céline, Bihoreau, Marie‐Thérèse, Cohen‐Haguenauer, Odile, Leroux, Dominique, Penet, Clotilde, Fert‐Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Eisinger, François, Adenis, Claude, Fajac, Anne, Gladieff, Laurence, Tinat, Julie, Floquet, Anne, Chiesa, Jean, Giraud, Sophie, Mortemousque, Isabelle, Soubrier, Florent, Audebert‐Bellanger, Séverine, Limacher, Jean‐Marc, Lasset, Christine, Lejeune‐Dumoulin, Sophie, Dreyfus, Hélène, Bignon, Yves‐Jean, Longy, Michel, Pujol, Pascal, Venat‐Bouvet, Laurence, Bonadona, Valérie, Berthet, Pascaline, Luporsi, Elisabeth, Maugard, Christine M., Noguès, Catherine, Delnatte, Capucine, Fricker, Jean‐Pierre, Gesta, Paul, Faivre, Laurence, Lortholary, Alain, Buecher, Bruno, Caron, Olivier, Gauthier‐Villars, Marion, Coupier, Isabelle, Servant, Nicolas, Boland, Anne, Mazoyer, Sylvie, Deleuze, Jean‐François, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

“…Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of…”
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Genetic characterization of B-cell prolymphocytic leukemia: a prognostic model involving MYC and TP53 by Chapiro, Elise, Pramil, Elodie, Diop, M'boyba, Roos-Weil, Damien, Dillard, Clémentine, Gabillaud, Clémentine, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesesve, Jean-François, Yon, Mélanie, Jondreville, Ludovic, Lesty, Claude, Davi, Frédéric, Le Garff-Tavernier, Magali, Droin, Nathalie, Dessen, Philippe, Algrin, Caroline, Leblond, Véronique, Gabarre, Jean, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stéphanie, Collonge-Rame, Marie-Agnès, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos A., Bernard, Olivier A., Nguyen-Khac, Florence

“…B-cell prolymphocytic leukemia (B-PLL) is a rare hematological disorder whose underlying oncogenic mechanisms are poorly understood. Our cytogenetic and…”
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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

“…Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the…”
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Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study by El Hachem, Noha, Abadie, Caroline, Longy, Michel, Colas, Chrystelle, Fert-Ferrer, Sandra, Leroux, Dominique, Grandval, Philippe, Prieur, Fabienne, Collonge-Rame, MarieAgnes, Faivre, Laurence, Fricker, Jean-Pierre, Zerbib, Frank, Coupier, Isabelle, Cauchin, Estelle, Pinson, Stephane, Saurin, Jean Christophe

“…BACKGROUND:Almost no prospective data on endoscopy in MUTYH monoallelic carriers are available. OBJECTIVE:This study aimed to define the prevalence of…”
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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

“…The use of multigene panel testing for patients with a predisposition to Hereditary Breast and Ovarian Cancer syndrome (HBOC) is increasing as the…”
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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 by Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine, Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine

“…Abstract Background Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases…”
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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 by Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M, Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine

“…Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases with increased age at…”
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Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features by Fert-Ferrer, Sandra, Guichet, Agnès, Tantau, Julia, Lise Delezoide, Anne, Ozilou, Catherine, Pierrick Romana, Serge, Gosset, Philippe, Viot, Géraldine, Loison, Stéphane, Moraine, Claude, Morichon-Delvallez, Nicole, Turleau, Catherine, Vekemans, Michel, Prieur, Marguerite

“…We describe a subtle translocation t(8;11)(p23.2;p15.5) ascertained after two induced abortions in the same sibship because of the discovery of fetal hydrops…”
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Genetic characterization of B-cell prolymphocytic leukemia: a prognostic model involving MYC and TP53 by Chapiro, Elise, Pramil, Elodie, Diop, M'Boyba, Roos-Weil, Damien, Dillard, Clémentine, Gabillaud, Clémentine, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesesve, Jean-François, Yon, Mélanie, Jondreville, Ludovic, Lesty, Claude, Davi, Frederic, Le Garff-Tavernier, Magali, Droin, Nathalie, Dessen, Philippe, Algrin, Caroline, Leblond, Veronique, Gabarre, Jean, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stephanie, Collonge-Rame, Marie-Agnès, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos, Bernard, Olivier, Nguyen-Khac, Florence

“…Key Points B-PLL is tightly linked to MYC aberrations (translocation or gain) and 17p (TP53) deletion. Cases of B-PLL with MYC aberration and 17p (TP53)…”
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Genetic characterization of B-cell prolymphocytic leukemia: a prognostic model involving MYC and TP53 by Chapiro, Elise, Pramil, Elodie, Diop, M'Boyba, Roos-Weil, Damien, Dillard, Clémentine, Gabillaud, Clémentine, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesesve, Jean-François, Yon, Mélanie, Jondreville, Ludovic, Lesty, Claude, Davi, Frederic, Le Garff-Tavernier, Magali, Droin, Nathalie, Dessen, Philippe, Algrin, Caroline, Leblond, Veronique, Gabarre, Jean, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stephanie, Collonge-Rame, Marie-Agnès, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos, Bernard, Olivier, Nguyen-Khac, Florence

“…Key Points B-PLL is tightly linked to MYC aberrations (translocation or gain) and 17p (TP53) deletion. Cases of B-PLL with MYC aberration and 17p (TP53)…”
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Genetic Characterization of B-Cell Prolymphocytic Leukemia (B-PLL): A Hierarchical Prognostic Model Involving MYC and TP53 Abnormalities. on Behalf of the Groupe Francophone De Cytogenetique Hematologique (GFCH) and the French Innovative Leukemia Organization (FILO) Group by Chapiro, Elise, Roos-Weil, Damien, Bougacha, Nadia, Gabillaud, Clementine, Dillard, Clémentine, Pramil, Elodie, Yon, Melanie, Maloum, Karim, Settegrana, Catherine, Baseggio, Lucile, Lesty, Claude, Davi, Frederic, Le Garff-Tavernier, Magali, Diop, M'boyba Khadija, Droin, Nathalie M, Dessen, Philippe, Leblond, Veronique, Algrin, Caroline, Bouzy, Simon, Eclache, Virginie, Gaillard, Baptiste, Callet-Bauchu, Evelyne, Muller, Marc, Lefebvre, Christine, Nadal, Nathalie, Ittel, Antoine, Struski, Stéphanie, Collonge-Rame, Marie-Agnes, Quilichini, Benoit, Fert-Ferrer, Sandra, Auger, Nathalie, Radford-Weiss, Isabelle, Wagner, Lena, Scheinost, Sebastian, Zenz, Thorsten, Susin, Santos, Bernard, Olivier, Nguyen-Khac, Florence

“…B-PLL is defined by the presence of prolymphocytes in peripheral blood exceeding 55% of lymphoid cells. The diagnosis, mainly based on clinical and…”
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“Double-hit” chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain by Chapiro, Elise, Lesty, Claude, Gabillaud, Clémentine, Durot, Eric, Bouzy, Simon, Armand, Marine, Le Garff-Tavernier, Magali, Bougacha, Nadia, Struski, Stéphanie, Bidet, Audrey, Laharanne, Elodie, Barin, Carole, Veronese, Lauren, Prié, Nolwen, Eclache, Virginie, Gaillard, Baptiste, Michaux, Lucienne, Lefebvre, Christine, Gaillard, Jean-Baptiste, Terré, Christine, Penther, Dominique, Bastard, Christian, Nadal, Nathalie, Fert-Ferrer, Sandra, Auger, Nathalie, Godon, Catherine, Sutton, Laurent, Tournilhac, Olivier, Susin, Santos, Nguyen-Khac, Florence

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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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Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course by Put, Natalie, Van Roosbroeck, Katrien, Konings, Peter, Meeus, Peter, Brusselmans, Caroline, Rack, Katrina, Gervais, Carine, Nguyen-Khac, Florence, Chapiro, Elise, Radford-Weiss, Isabelle, Struski, Stéphanie, Dastugue, Nicole, Gachard, Nathalie, Lefebvre, Christine, Barin, Carole, Eclache, Virginie, Fert-Ferrer, Sandra, Laibe, Sophy, Mozziconacci, Marie-Joëlle, Quilichini, Benoît, Poirel, Hélène A., Wlodarska, Iwona, Hagemeijer, Anne, Moreau, Yves, Vandenberghe, Peter, Michaux, Lucienne

“…Translocations involving MYC are rare in chronic lymphocytic leukemia (CLL), and up to now, their prognostic significance remains unclear. We report the…”
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