Cytogenetics in the management of hematologic neoplasms with germline predisposition: guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)

Autor: Gachard, Nathalie, Lafage-Pochitaloff, Marina, Quessada, Julie, Auger, Nathalie, Collonge-Rame, Marie-Agnès

Publikováno v: In Current Research in Translational Medicine October-December 2023 71(4)

The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Autor: Lafage-Pochitaloff, Marina ^*, Gerby, Bastien ^*, Baccini, Véronique ^*, Largeaud, Laetitia, Fregona, Vincent, Prade, Naïs, Juvin, Pierre-Yves, Jamrog, Laura, Bories, Pierre, Hébrard, Sylvie, Lagarde, Stéphanie, Mas, Véronique Mansat-De, Dovey, Oliver M, Yusa, Kosuke, Vassiliou, George S, Jansen, Joop H., Tekath, Tobias, Rombaut, David, Ameye, Geneviève, Barin, Carole, Bidet, Audrey, Boudjarane, John, Collonge-Rame, Marie-Agnès, Gervais, Carine, Ittel, Antoine, Lefebvre, Christine, Luquet, Isabelle, Michaux, Lucienne, Nadal, Nathalie, Poirel, Hélène A., Radford-Weiss, Isabelle, Ribourtout, Bénédicte, Richebourg, Steven, Struski, Stéphanie, Terré, Christine, Tigaud, Isabelle, Penther, Dominique, Eclache, Virginie, Fontenay, Michaela, Broccardo, Cyril ^*, Delabesse, Eric ^{*, **}

Publikováno v: In Blood Advances

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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 BRCA2 pathogenic variant

Autor: 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, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul

Publikováno v: GENETICS IN MEDICINE
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1726-1737
Genetics in Medicine, 23(9), 1726-1737. Nature Publishing Group
Genetics in Medicine, 23, 9, pp. 1726-1737
Lakeman, IMM, van, D B AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Schmidt, MK & Evans, D G 2021, ' 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 BRCA2 pathogenic variant. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Mortemousque, I, Jensen, U B, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & KConFab Investigators 2021, ' 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 BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 23(9), 1726-1737. SPRINGERNATURE
Dipòsit Digital de la UB
Universidad de Barcelona
HEBON Investigators, KConFab Investigators, GEMO Study Collaborators, EMBRACE Collaborators & OCGN Investigators 2021, ' 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 BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Scientia
Genetics in Medicine
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
Genetics in medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' 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 BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Gerdes, A M, Jensen, U B, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' 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 BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7

Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff307264df94c7ba3830c476324f06b
https://doi.org/10.1038/s41436-021-01198-7