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

ανά Boonen, Rick A. C. M., Vreeswijk, Maaike P. G., van Attikum, Haico
Έκδοση 2020

BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts

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

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

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

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

ανά 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.
Έκδοση 2020

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

ανά 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.
Έκδοση 2020

The functional impact of variants of uncertain significance in BRCA2

ανά 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.
Έκδοση 2018

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

ανά 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.
Έκδοση 2016

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

ανά 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.
Έκδοση 2021

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

ανά 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
Έκδοση 2019

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

ανά 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.
Έκδοση 2021

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

ανά 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.
Έκδοση 2020

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

ανά 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
Έκδοση 2022

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

ανά 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.
Έκδοση 2020

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

ανά 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.
Έκδοση 2010

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

ανά 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.
Έκδοση 2020

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

ανά 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
Έκδοση 2015

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

ανά 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
Έκδοση 2019

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

ανά 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.
Έκδοση 2023

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

ανά 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.
Έκδοση 2022

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

ανά 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.
Έκδοση 2022