From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene

por Bouras, Ahmed, Legrand, Clementine, Kourda, Jihen, Ruano, Eric, Grand‐Masson, Chloé, Lefol, Cedrick, Wang, Qing
Publicado 2023

Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl...

por Bouroumeau, Antonin, Kaphan, Eleonore, Legrand, Clémentine, Raskovalova, Tatiana, Szymanski, Gautier, Vettier, Claire, Lefebvre, Christine, Jacob, Marie-Christine, McLeer, Anne, Peuchmaur, Michel, Gressin, Rémy, Sartelet, Hervé
Publicado 2020

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

por 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
Publicado 2022

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

por Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Mitchell, Valérie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Deleuze, Jean-François, Boland, Anne, Hennebicq, Sylviane, Satre, Véronique, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Conne, Beatrice, Dacheux, Denis, Landrein, Nicolas, Schmitt, Alain, Stouvenel, Laurence, Lorès, Patrick, El Khouri, Elma, Bottari, Serge P., Fauré, Julien, Wolf, Jean-Philippe, Pernet-Gallay, Karin, Escoffier, Jessica, Gourabi, Hamid, Robinson, Derrick R., Nef, Serge, Dulioust, Emmanuel, Zouari, Raoudha, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.
Publicado 2018

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA...

por Lakeman, Inge M. M., van den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B. M., Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B. L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, van Asperen, Christi J., Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, Schmidt, Marjanka K.
Publicado 2021

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

por Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.
Publicado 2022