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 no Front Mol Biosci (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 no Cell Oncol (2009)

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 no Genet Med (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 no Genet Med (2020)

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

por 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
Publicado no Hum Mutat (2014)

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 no Genet Med (2018)

Functional assays for analysis of variants of uncertain significance in BRCA2

por 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.
Publicado em 2013

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

por 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.
Publicado em 2001

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 no 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

por 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
Publicado no BMC Cancer (2015)

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

por 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.
Publicado no J Med Genet (2020)

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 no Cancers (Basel) (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 no 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

por 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
Publicado em 2007

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 no 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

por 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
Publicado em 2011

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

por 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.
Publicado em 2012

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 no Cancers (Basel) (2020)

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 no Cancers (Basel) (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 em 2010