Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics

Autor: Koster, Roelof, Schipper, Luuk J., Giesbertz, Noor A.A., van Beek, Daphne, Mendeville, Matías, Samsom, Kris G., Rosenberg, Efraim H., Hogervorst, Frans B.L., Roepman, Paul, Boelens, Mirjam C., Bosch, Linda J.W., van den Berg, Jose G., Meijer, Gerrit A., Voest, Emile E., Cuppen, Edwin, Ruijs, Marielle W.G., van Wezel, Tom, van der Kolk, Lizet, Monkhorst, Kim

Publikováno v: In Genetics in Medicine February 2024 26(2)

Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

Autor: Valdimarsdottir Heiddis B, van der Luijt Rob B, Hogervorst Frans BL, Hahn Daniela EE, Bleiker Eveline MA, Verhoef Senno, Ausems Margreet GEM, Wevers Marijke R, van Hillegersberg Richard, Rutgers Emiel, Aaronson Neil K

Publikováno v: BMC Cancer, Vol 11, Iss 1, p 6 (2011)

Abstract Background It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation. Such women have an increased risk of developing a new p

Externí odkaz: https://doaj.org/article/9b551bc9edc14eed964ebde1456ebd31

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Autor: Gómez García Encarna, van Os Theo A, Hogervorst Frans B, Verhoef Senno, Gille Johan J, Dommering Charlotte J, van der Luijt Rob B, Ausems Margreet G, Ligtenberg Marjolijn, Hoogerbrugge Nicoline, van der Hout Annemarie H, Oosterwijk Jan C, van den Ouweland Ans, Oldenburg Rogier, Vreeswijk Maaike P, Mohammadi Leila, Blok Marinus J, Wijnen Juul T, Helmer Quinta, Devilee Peter, van Asperen Christi J, van Houwelingen Hans C

Publikováno v: BMC Cancer, Vol 9, Iss 1, p 211 (2009)

Abstract Background Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of co-segregation of the variant with the disease in families is a powerf

Externí odkaz: https://doaj.org/article/5b24fbcfef5549b7a65cd823ecfc9509

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Autor: Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Antoniou, Antonis C.

Publikováno v: In Genetics in Medicine October 2020 22(10):1653-1666

Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation.

Autor: Menko, Fred H., van der Velden, Sophie L., Griffioen, Diana N., Ait Moha, Daoud, Jeanson, Kiki N., Hogervorst, Frans B. L., Giesbertz, Noor A. A., Bleiker, Eveline M. A., van der Kolk, Lizet E.

Publikováno v: Journal of Genetic Counseling; Jun2024, Vol. 33 Issue 3, p615-622, 8p