Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction

por Boonen, Rick A. C. M., Vreeswijk, Maaike P. G., van Attikum, Haico
Publicado 2020

BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts

por Jonsdottir, Asta Björk, Vreeswijk, Maaike P. G., Wolterbeek, Ron, Devilee, Peter, Tanke, Hans J., Eyfjörd, Jorunn E., Szuhai, Karoly
Publicado 2009

Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue

por van Wijk, Lise M., Vermeulen, Sylvia, ter Haar, Natalja T., Kramer, Claire J. H., Terlouw, Diantha, Vrieling, Harry, Cohen, Danielle, Vreeswijk, Maaike P. G.
Publicado 2023

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

por Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2020

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

por Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2020

The functional impact of variants of uncertain significance in BRCA2

por Mesman, Romy L. S., Calléja, Fabienne M. G. R., Hendriks, Giel, Morolli, Bruno, Misovic, Branislav, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2018

Tumor slice culture system to assess drug response of primary breast cancer

por Naipal, Kishan A. T., Verkaik, Nicole S., Sánchez, Humberto, van Deurzen, Carolien H. M., den Bakker, Michael A., Hoeijmakers, Jan H.J., Kanaar, Roland, Vreeswijk, Maaike P.G., Jager, Agnes, van Gent, Dik C.
Publicado 2016

The RAD51-FFPE Test; Calibration of a Functional Homologous Recombination Deficiency Test on Diagnostic Endometrial and Ovarian Tumor Blocks

por van Wijk, Lise M., Kramer, Claire J. H., Vermeulen, Sylvia, ter Haar, Natalja T., de Jonge, Marthe M., Kroep, Judith R., de Kroon, Cor D., Gaarenstroom, Katja N., Vrieling, Harry, Bosse, Tjalling, Vreeswijk, Maaike P. G.
Publicado 2021

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

por Boonen, Rick A. C. M., Rodrigue, Amélie, Stoepker, Chantal, Wiegant, Wouter W., Vroling, Bas, Sharma, Milan, Rother, Magdalena B., Celosse, Nandi, Vreeswijk, Maaike P. G., Couch, Fergus, Simard, Jacques, Devilee, Peter, Masson, Jean-Yves, van Attikum, Haico
Publicado 2019

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

por Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2021

The RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas

por van Wijk, Lise M., Vermeulen, Sylvia, Meijers, Matty, van Diest, Manuela F., ter Haar, Natalja T., de Jonge, Marthe M., Solleveld-Westerink, Nienke, van Wezel, Tom, van Gent, Dik C., Kroep, Judith R., Bosse, Tjalling, Gaarenstroom, Katja N., Vrieling, Harry, Vreeswijk, Maaike P. G.
Publicado 2020

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk

por Boonen, Rick A.C.M., Wiegant, Wouter W., Celosse, Nandi, Vroling, Bas, Heijl, Stephan, Kote-Jarai, Zsofia, Mijuskovic, Martina, Cristea, Simona, Solleveld-Westerink, Nienke, van Wezel, Tom, Beerenwinkel, Niko, Eeles, Rosalind, Devilee, Peter, Vreeswijk, Maaike P.G., Marra, Giancarlo, van Attikum, Haico
Publicado 2022

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

por Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Llovet, Patricia, Díez-Gómez, Beatriz, Caloca, María José, Pérez-Segura, Pedro, Fraile-Bethencourt, Eugenia, Colmena, Marta, Carvalho, Sara, Allen, Jamie, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Publicado 2020

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

por Morgan, Neil V., Morris, Mark R., Cangul, Hakan, Gleeson, Diane, Straatman-Iwanowska, Anna, Davies, Nicholas, Keenan, Stephen, Pasha, Shanaz, Rahman, Fatimah, Gentle, Dean, Vreeswijk, Maaike P. G., Devilee, Peter, Knowles, Margaret A., Ceylaner, Serdar, Trembath, Richard C., Dalence, Carlos, Kismet, Erol, Köseoğlu, Vedat, Rossbach, Hans-Christoph, Gissen, Paul, Tannahill, David, Maher, Eamonn R.
Publicado 2010

Fasting mimicking diet as an adjunct to neoadjuvant chemotherapy for breast cancer in the multicentre randomized phase 2 DIRECT trial

por de Groot, Stefanie, Lugtenberg, Rieneke T., Cohen, Danielle, Welters, Marij J. P., Ehsan, Ilina, Vreeswijk, Maaike P. G., Smit, Vincent T. H. B. M., de Graaf, Hiltje, Heijns, Joan B., Portielje, Johanneke E. A., van de Wouw, Agnes J., Imholz, Alex L. T., Kessels, Lonneke W., Vrijaldenhoven, Suzan, Baars, Arnold, Kranenbarg, Elma Meershoek-Klein, Carpentier, Marjolijn Duijm-de, Putter, Hein, van der Hoeven, Jacobus J. M., Nortier, Johan W. R., Longo, Valter D., Pijl, Hanno, Kroep, Judith R.
Publicado 2020

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

por 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
Publicado 2015

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

por Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F, Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S, Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, kConFab, Valenzuela-Palomo, Alberto, Velasco, Eladio A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
Publicado 2019

The impact of coding germline variants on contralateral breast cancer risk and survival

por Morra, Anna, Mavaddat, Nasim, Muranen, Taru A., Ahearn, Thomas U., Allen, Jamie, Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Behrens, Sabine, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Camp, Nicola J., Carvalho, Sara, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chenevix-Trench, Georgia, Czene, Kamila, Decker, Brennan, Dennis, Joe, Dörk, Thilo, Dorling, Leila, Dunning, Alison M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Geurts-Giele, Willemina R.R., Giles, Graham G., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A., He, Wei, Heikkilä, Päivi, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jakubowska, Anna, Jung, Audrey Y., Keeman, Renske, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mulligan, Anna Marie, Newman, William G., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul D.P., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Spurdle, Amanda B., Tomlinson, Ian, Truong, Thérèse, van Veen, Elke M., Vreeswijk, Maaike P.G., Wang, Qin, Wendt, Camilla, Yang, Xiaohong R., Nevanlinna, Heli, Devilee, Peter, Easton, Douglas F., Schmidt, Marjanka K.
Publicado 2023

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

por Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Keeman, Renske, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Briceno, Ignacio, Brüning, Thomas, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jürgen, Giles, Graham G., Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M., Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Yip, Cheng Har, Spurdle, Amanda B., Vreeswijk, Maaike P.G., Dunning, Alison M., García-Closas, Montserrat, Pharoah, Paul D.P., Kvist, Anders, Muranen, Taru A., Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K., Easton, Douglas F.
Publicado 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

por Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Easton, Douglas F.
Publicado 2022