Publications by authors named "Fonnet Bleeker"

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Cancer risks for MSH6 pathogenic variant carriers.
Anne-Sophie van der Werf-'t Lam, James G Dowty, Morrison Italia, Astrid C Bakker, Fernande Koops, Fonnet Bleeker

Eur J Cancer· December 2025

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Evidence for pathogenicity of c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.
Setareh Moghadasi, Maria Zanti, Fonnet Bleeker, Marinus Blok, Merel E Braspenning

J Med Genet· December 2025

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Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome.
Daniel Karpati, Maartje Nielsen, Anja Wagner, Sanne W Bajwa-Ten Broeke, Fonnet E Bleeker

Gastroenterology· May 2025

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Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.
Wenneke van Weelden, Fonnet E Bleeker, Diana van Stijn, Dimitra Micha, Alessandra Maugeri

Am J Med Genet A· October 2024

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Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Mandy Villasmil, Carli M Tops, Liselotte van Hest, Fonnet Bleeker

Genes Chromosomes Cancer· May 2024

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Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Anne-Sophie van der Werf-'t Lam, Diantha Terlouw, Carli M Tops, Merel S van Kan, Liselotte P van Hest, Fonnet E Bleeker

Mod Pathol· September 2023

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Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation.
Vincent M T de Jong, Roelof Pruntel, Tessa G Steenbruggen, Fonnet E Bleeker, Petra Nederlof

Fam Cancer· April 2023

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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Cora M Aalfs, Jakob K Anninga, Fonnet E Bleeker

Fam Cancer· October 2021

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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cindy Chau, Remco van Doorn, Natasha M van Poppelen, Nienke van der Stoep, Arjen R Mensenkamp, Fonnet E Bleeker, Jaco C Bleeker

Cancers (Basel)· August 2019

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Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Willemina R Geurts-Giele, Efraim H Rosenberg, Anja van Rens, Monique E van Leerdam, Winand N Dinjens, Fonnet E Bleeker

Mol Genet Genomic Med· July 2019

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Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility?
Kirsten F L Douma, Fonnet E Bleeker, Niki M Medendorp, Emmelyn A J Croes, Ellen M A Smets

J Community Genet· April 2019

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Mutations Sensitize Acute Myeloid Leukemia to PARP Inhibition and This Is Reversed by IDH1/2-Mutant Inhibitors.
Remco J Molenaar, Tomas Radivoyevitch, Yasunobu Nagata, Mohammed Khurshed, Bartolomiej Przychodzen, Fonnet E Bleeker

Clin Cancer Res· April 2018

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Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation.
Floor A M Postema, Saskia M J Hopman, Cora M Aalfs, Lieke P V Berger, Fonnet E Bleeker

Eur J Cancer· July 2017

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Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Fonnet E Bleeker

BMJ Open· January 2017

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Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.
Theo J M Hulsebos, Susan Kenter, Frank Baas, Eline A Nannenberg, Fonnet E Bleeker

Genes Chromosomes Cancer· April 2016

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Reply to: Familial syndromes associated with intracranial tumours: a review.
Fonnet E Bleeker

Childs Nerv Syst· November 2015

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Radioprotection of IDH1-Mutated Cancer Cells by the IDH1-Mutant Inhibitor AGI-5198.
Remco J Molenaar, Dennis Botman, Myrthe A Smits, Vashendriya V Hira, Sanne A van Lith, Fonnet E Bleeker

Cancer Res· November 2015

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The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation.
Remco J Molenaar, Tomas Radivoyevitch, Jaroslaw P Maciejewski, Cornelis J F van Noorden, Fonnet E Bleeker

Biochim Biophys Acta· December 2014

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The combination of IDH1 mutations and MGMT methylation status predicts survival in glioblastoma better than either IDH1 or MGMT alone.
Remco J Molenaar, Dagmar Verbaan, Simona Lamba, Carlo Zanon, Judith W M Jeuken, Fonnet E Bleeker

Neuro Oncol· September 2014

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Mutational profiling of kinases in glioblastoma.
Fonnet E Bleeker, Simona Lamba, Carlo Zanon, Remco J Molenaar, Theo J M Hulsebos

BMC Cancer· September 2014

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Co-occurrence in body site of malformations and cancer.
Fonnet E Bleeker, Saskia M Hopman, Raoul C Hennekam

Eur J Med Genet· August 2014

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Brain tumors and syndromes in children.
Fonnet E Bleeker, Saskia M J Hopman, Johannes H M Merks, Cora M Aalfs, Raoul C M Hennekam

Neuropediatrics· June 2014

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Significance of complete 1p/19q co-deletion, IDH1 mutation and MGMT promoter methylation in gliomas: use with caution.
Sandra H E Boots-Sprenger, Angelique Sijben, Jos Rijntjes, Bastiaan B J Tops, Albert J Idema, Fonnet E Bleeker

Mod Pathol· July 2013

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[Reversible neurological deficit years after high grade glioma--the SMART syndrome].
Fonnet E Bleeker, Joseph C J Bot, Hanneke E Ronner, Tjeerd J Postma

Ned Tijdschr Geneeskd· October 2012

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Open-wound treatment for gunshot to the brain.
Pepijn van den Munckhof, Vincent G Geukers, Fonnet E Bleeker, Celia E Allison, W Peter Vandertop

J Neurosurg Pediatr· July 2012

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