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

af Boonen, Rick A. C. M., Vreeswijk, Maaike P. G., van Attikum, Haico
Udgivet i Front Mol Biosci (2020)

BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts

af Jonsdottir, Asta Björk, Vreeswijk, Maaike P. G., Wolterbeek, Ron, Devilee, Peter, Tanke, Hans J., Eyfjörd, Jorunn E., Szuhai, Karoly
Udgivet i Cell Oncol (2009)

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

af 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.
Udgivet i Genet Med (2020)

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

af 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.
Udgivet i Genet Med (2020)

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

af Hendriks, Giel, Morolli, Bruno, Calléja, Fabienne M.G.R., Plomp, Anouk, Mesman, Romy L.S., Meijers, Matty, Sharan, Shyam K., Vreeswijk, Maaike P.G., Vrieling, Harry
Udgivet i Hum Mutat (2014)

The functional impact of variants of uncertain significance in BRCA2

af 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.
Udgivet i Genet Med (2018)

Functional assays for analysis of variants of uncertain significance in BRCA2

af Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.
Udgivet 2013

Restoration of Nucleotide Excision Repair in a Helicase-Deficient XPD Mutant from Intragenic Suppression by a Trichothiodystrophy Mutation

af George, James W., Salazar, Edmund P., Vreeswijk, Maaike P. G., Lamerdin, Jane E., Reardon, Joyce T., Zdzienicka, Malgorzata Z., Sancar, Aziz, Kadkhodayan, Saloumeh, Tebbs, Robert S., Mullenders, Leon H. F., Thompson, Larry H.
Udgivet 2001

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

af 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.
Udgivet i BMC Cancer (2016)

The effects of short-term fasting on tolerance to (neo) adjuvant chemotherapy in HER2-negative breast cancer patients: a randomized pilot study

af de Groot, Stefanie, Vreeswijk, Maaike PG, Welters, Marij JP, Gravesteijn, Gido, Boei, Jan JWA, Jochems, Anouk, Houtsma, Daniel, Putter, Hein, van der Hoeven, Jacobus JM, Nortier, Johan WR, Pijl, Hanno, Kroep, Judith R
Udgivet i BMC Cancer (2015)

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

af Monteiro, Alvaro N., Bouwman, Peter, Kousholt, Arne Nedergaard, Eccles, Diana M., Millot, Gael A., Masson, Jean-Yves, Schmidt, Marjanka K., Sharan, Shyam K., Scully, Ralph, Wiesmüller, Lisa, Couch, Fergus J., Vreeswijk, Maaike P.G.
Udgivet i J Med Genet (2020)

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

af 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.
Udgivet i Cancers (Basel) (2021)

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

af 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
Udgivet i Nat Commun (2019)

Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases

af Huijts, Petra EA, Vreeswijk, Maaike PG, Kroeze-Jansema, Karin HG, Jacobi, Catharina E, Seynaeve, Caroline, Krol-Warmerdam, Elly MM, Wijers-Koster, Pauline M, Blom, Jannet C, Pooley, Karen A, Klijn, Jan GM, Tollenaar, Rob AEM, Devilee, Peter, van Asperen, Christi J
Udgivet 2007

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

af 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.
Udgivet i Cancers (Basel) (2021)

Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10

af Huijts, Petra EA, van Dongen, Minka, de Goeij, Moniek CM, van Moolenbroek, Adrian J, Blanken, Freek, Vreeswijk, Maaike PG, de Kruijf, Esther M, Mesker, Wilma E, van Zwet, Erik W, Tollenaar, Rob AEM, Smit, Vincent THBM, van Asperen, Christi J, Devilee, Peter
Udgivet 2011

A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS)

af Millot, Gaël, Carvalho, Marcelo A., Caputo, Sandrine M, Vreeswijk, Maaike P.G., Brown, Melissa A, Webb, Michelle, Rouleau, Etienne, Neuhausen, Susan L., Hansen, Thomas v. O., Galli, Alvaro, Brandão, Rita D, Blok, Marinus J., Velkova, Aneliya, Couch, Fergus J., Monteiro, Alvaro N.A.
Udgivet 2012

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

af 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.
Udgivet i Cancers (Basel) (2020)

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

af 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.
Udgivet i Cancers (Basel) (2020)

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

af 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.
Udgivet 2010