HRness in Breast and Ovarian Cancers

Autor Santana dos Santos, Elizabeth, Lallemand, François, Petitalot, Ambre, Caputo, Sandrine M., Rouleau, Etienne
Vydáno v Int J Mol Sci (2020)

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

Autor Julien, Manon, Ghouil, Rania, Petitalot, Ambre, Caputo, Sandrine M., Carreira, Aura, Zinn-Justin, Sophie
Vydáno v Biomolecules (2021)

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

Autor Santana dos Santos, Elizabeth, Lallemand, François, Burke, Leslie, Stoppa-Lyonnet, Dominique, Brown, Melissa, Caputo, Sandrine M., Rouleau, Etienne
Vydáno v Cancers (Basel) (2018)

Functional assays for analysis of variants of uncertain significance in BRCA2

Autor Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.
Vydáno 2013

Involvement of the FOXO6 transcriptional factor in breast carcinogenesis

Autor 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.
Vydáno v Oncotarget (2017)

Is BRCA2 involved in early onset colorectal cancer risk?

Autor 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
Vydáno v Clin Genet (2019)

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

Autor 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.
Vydáno v BMC Med Res Methodol (2021)

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

Autor 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.
Vydáno v Sci Rep (2020)

Genetic Landscape of Male Breast Cancer

Autor 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
Vydáno v Cancers (Basel) (2021)

A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS)

Autor Millot, Gaël, Carvalho, Marcelo A., Caputo, Sandrine M, Vreeswijk, Maaike P.G., Brown, Melissa A, Webb, Michelle, Rouleau, Etienne, Neuhausen, Susan L., Hansen, Thomas v. O., Galli, Alvaro, Brandão, Rita D, Blok, Marinus J., Velkova, Aneliya, Couch, Fergus J., Monteiro, Alvaro N.A.
Vydáno 2012

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

Autor 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
Vydáno v Cancers (Basel) (2021)

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

Autor 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
Vydáno v Oncotarget (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

Autor 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
Vydáno v Nucleic Acids Res (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

Autor 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
Vydáno v Nucleic Acids Res (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

Autor 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
Vydáno v Nucleic Acids Res (2020)

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

Autor 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
Vydáno v J Med Genet (2015)

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

Autor 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
Vydáno v Front Oncol (2018)

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

Autor 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, Giacomo, Daniela Di, 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
Vydáno v Cancer Res (2020)

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

Autor 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.
Vydáno v Hum Mutat (2018)

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classi...

Autor de la Hoya, Miguel, Soukarieh, Omar, López-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana, Santamariña, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Investigators, KConFaB, Niederacher, Diether, Arnold, Norbert, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J., Houdayer, Claude, Caputo, Sandrine M., Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C., van Asperen, Christi J., Singer, Christian F., Sullivan, Jan, Poplawski, Nicola, Mai, Phuong, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael, Meeks, Huong D., Martins, Alexandra, Goldgar, David E., Spurdle, Amanda B.
Vydáno v Hum Mol Genet (2016)