Fonnet E Bleeker
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Explore the profile of Fonnet E Bleeker including associated specialties, affiliations and a list of published articles.
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Articles
36
Citations
1754
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Recent Articles
1.
Karpati D, Nielsen M, Wagner A, Bajwa-Ten Broeke S, Bleeker F, van Leerdam M
Gastroenterology
. 2025 Jan;
PMID: 39800080
No abstract available.
2.
van Weelden W, Bleeker F, van Stijn D, Micha D, Maugeri A, Kuijpers T, et al.
Am J Med Genet A
. 2024 May;
194(10):e63605.
PMID: 38752492
Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also...
3.
van der Werf-t Lam A, Terlouw D, Tops C, van Kan M, van Hest L, Gille H, et al.
Mod Pathol
. 2023 Jun;
36(9):100240.
PMID: 37307877
Diagnosis of Lynch syndrome (LS) caused by a pathogenic germline MSH6 variant may be complicated by discordant immunohistochemistry (IHC) and/or by a microsatellite stable (MSS) phenotype. This study aimed to...
4.
De Jong V, Pruntel R, Steenbruggen T, Bleeker F, Nederlof P, Hogervorst F, et al.
Fam Cancer
. 2022 Sep;
22(2):151-154.
PMID: 36112334
An inherited single nucleotide variant (SNV) in the 5'UTR of the BRCA1 gene c.-107A > T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and...
5.
Postema F, Hopman S, de Borgie C, Aalfs C, Anninga J, Berger L, et al.
Fam Cancer
. 2021 Mar;
20(4):263-271.
PMID: 33686467
Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic accuracy and clinical efficiency of identifying...
6.
Chau C, van Doorn R, van Poppelen N, van der Stoep N, Mensenkamp A, Sijmons R, et al.
Cancers (Basel)
. 2019 Aug;
11(8).
PMID: 31382694
Germline pathogenic variants in the BRCA1-associated protein-1 () gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous...
7.
Geurts-Giele W, Rosenberg E, Rens A, van Leerdam M, Dinjens W, Bleeker F
Mol Genet Genomic Med
. 2019 May;
7(7):e00699.
PMID: 31104363
Background: Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent....
8.
Douma K, Bleeker F, Medendorp N, Croes E, Smets E
J Community Genet
. 2018 Sep;
10(2):237-247.
PMID: 30209752
Individuals at high risk for Lynch syndrome (LS) should be offered genetic counselling, since preventive options are available. However, uptake of genetic services and follow-up care are currently suboptimal, possibly...
9.
Molenaar R, Radivoyevitch T, Nagata Y, Khurshed M, Przychodzen B, Makishima H, et al.
Clin Cancer Res
. 2018 Jan;
24(7):1705-1715.
PMID: 29339439
Somatic mutations in occur in approximately 20% of patients with myeloid neoplasms, including acute myeloid leukemia (AML). IDH1/2 enzymes produce -2-hydroxyglutarate (2HG), which associates with increased DNA damage and improved...
10.
Postema F, Hopman S, Aalfs C, Berger L, Bleeker F, Dommering C, et al.
Eur J Cancer
. 2017 May;
80:48-54.
PMID: 28544908
Introduction: Recognising a tumour predisposition syndrome (TPS) in childhood cancer patients is of major clinical relevance. The presence of a TPS may be suggested by the type of tumour in...