HRness in Breast and Ovarian Cancers

由 Santana dos Santos, Elizabeth, Lallemand, François, Petitalot, Ambre, Caputo, Sandrine M., Rouleau, Etienne
發表在 Int J Mol Sci (2020)

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

由 Julien, Manon, Ghouil, Rania, Petitalot, Ambre, Caputo, Sandrine M., Carreira, Aura, Zinn-Justin, Sophie
發表在 Biomolecules (2021)

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

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

Functional assays for analysis of variants of uncertain significance in BRCA2

由 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.
出版 2013

Involvement of the FOXO6 transcriptional factor in breast carcinogenesis

由 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.
發表在 Oncotarget (2017)

Is BRCA2 involved in early onset colorectal cancer risk?

由 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
發表在 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

由 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.
發表在 BMC Med Res Methodol (2021)

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

由 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.
發表在 Sci Rep (2020)

Genetic Landscape of Male Breast Cancer

由 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
發表在 Cancers (Basel) (2021)

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

由 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.
出版 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

由 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
發表在 Cancers (Basel) (2021)

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

由 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
發表在 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

由 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
發表在 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

由 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
發表在 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

由 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
發表在 Nucleic Acids Res (2020)

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

由 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
發表在 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

由 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
發表在 Front Oncol (2018)

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

由 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
發表在 Cancer Res (2020)

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

由 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.
發表在 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...

由 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.
發表在 Hum Mol Genet (2016)