HRness in Breast and Ovarian Cancers

por Santana dos Santos, Elizabeth, Lallemand, François, Petitalot, Ambre, Caputo, Sandrine M., Rouleau, Etienne
Publicado 2020

Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events

por Julien, Manon, Ghouil, Rania, Petitalot, Ambre, Caputo, Sandrine M., Carreira, Aura, Zinn-Justin, Sophie
Publicado 2021

Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

por Santana dos Santos, Elizabeth, Lallemand, François, Burke, Leslie, Stoppa-Lyonnet, Dominique, Brown, Melissa, Caputo, Sandrine M., Rouleau, Etienne
Publicado 2018

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer

por Borcoman, Edith, Santana dos Santos, Elizabeth, Genestie, Catherine, Pautier, Patricia, Lacroix, Ludovic, Caputo, Sandrine M., Cabaret, Odile, Guillaud-Bataille, Marine, Michels, Judith, Auguste, Aurelie, Leary, Alexandra, Rouleau, Etienne
Publicado 2023

Involvement of the FOXO6 transcriptional factor in breast carcinogenesis

por Lallemand, François, Petitalot, Ambre, Vacher, Sophie, de Koning, Leanne, Taouis, Karim, Lopez, Bernard S., Zinn-Justin, Sophie, Dalla-Venezia, Nicole, Chemlali, Walid, Schnitzler, Anne, Lidereau, Rosette, Bieche, Ivan, Caputo, Sandrine M.
Publicado 2017

Is BRCA2 involved in early onset colorectal cancer risk?

por Gay‐Bellile, Mathilde, Privat, Maud, Martins, Alexandra, Caputo, Sandrine M., Pebrel‐Richard, Céline, Cavaillé, Mathias, Viala, Sandrine, Corsini, Carole, Rodrigues, Michael, Barnich, Nicolas, Bidet, Yannick, Uhrhammer, Nancy, Bignon, Yves‐Jean
Publicado 2019

WWOX binds MERIT40 and modulates its function in homologous recombination, implications in breast cancer

por Taouis, Karim, Vacher, Sophie, Guirouilh-Barbat, Josée, Camonis, Jacques, Formstecher, Etienne, Popova, Tatiana, Hamy, Anne-Sophie, Petitalot, Ambre, Lidereau, Rosette, Caputo, Sandrine M., Zinn-Justin, Sophie, Bièche, Ivan, Driouch, Keltouma, Lallemand, François
Publicado 2023

Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma

por Debbabi, Inès, Vacher, Sophie, Neuzillet, Cindy, Cros, Jérome, Revillon, Françoise, Petitalot, Ambre, Turpin, Anthony, Antonio, Samantha, Girard, Elodie, Dupain, Célia, Kamal, Maud, Hammel, Pascal, Bièche, Ivan, Masliah-Planchon, Julien, Caputo, Sandrine M.
Publicado 2023

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

por Jiao, Yue, Lesueur, Fabienne, Azencott, Chloé-Agathe, Laurent, Maïté, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Laugé, Anthony, Noguès, Catherine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, Caputo, Sandrine M.
Publicado 2021

The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis

por Lallemand, François, Vacher, Sophie, de Koning, Leanne, Petitalot, Ambre, Briaux, Adrien, Driouch, Keltouma, Callens, Céline, Schnitzler, Anne, Lecerf, Caroline, Oulie-Bard, Floriane, Barbet, Aurélie, Vincent, Anne, Zinn-Justin, Sophie, Lopez, Bernard S., Lidereau, Rosette, Bieche, Ivan, Caputo, Sandrine M.
Publicado 2020

Genetic Landscape of Male Breast Cancer

por Campos, Fernando Augusto Batista, Rouleau, Etienne, Torrezan, Giovana Tardin, Carraro, Dirce Maria, Casali da Rocha, José Claudio, Mantovani, Higor Kassouf, da Silva, Leonardo Roberto, Osório, Cynthia Aparecida Bueno de Toledo, Moraes Sanches, Solange, Caputo, Sandrine M., Santana dos Santos, Elizabeth
Publicado 2021

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

por 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, Bièche, Ivan, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Lidereau, Rosette, Toulas, Christine, Rouleau, Etienne
Publicado 2021

Value of the loss of heterozygosity to BRCA1 variant classification

por Santana dos Santos, Elizabeth, Spurdle, Amanda B., Carraro, Dirce M., Briaux, Adrien, Southey, Melissa, Torrezan, Giovana, Petitalot, Ambre, Leman, Raphael, Lafitte, Philippe, Meseure, Didier, Driouch, Keltouma, Side, Lucy, Brewer, Carole, Beck, Sarah, Melville, Athalie, Callaway, Alison, Revillion, Françoise, Folgueira, Maria A. A. Koike, Parsons, Michael T., Thorne, Heather, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Bieche, Ivan, Caputo, Sandrine M., Rouleau, Etienne
Publicado 2022

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

por 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
Publicado 2018

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

por 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
Publicado 2018

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

por 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
Publicado 2018

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

por 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
Publicado 2020

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

por Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
Publicado 2015

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

por 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
Publicado 2018

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

por Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., De Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., van Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.
Publicado 2018