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Article
Open AccessGermline variant in MSX1 identified in a Dutch family with clustering of Barrett’s esophagus and esophageal adenocarcinoma
The vast majority of esophageal adenocarcinoma cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of Barrett’s esophagus an...
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Article
Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer
Gene fusions, mainly between TMPRSS2 and ERG, are frequent early genomic rearrangements in prostate cancer (PCa). In order to discover novel genomic fusion events, we applied whole-genome paired-end sequencing to...
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Article
Open AccessPatient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11
Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.
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Article
Open AccessOncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma
Recently, oncogenic G protein alpha subunit q (GNAQ) mutations have been described in about 50% of uveal melanomas and in the blue nevi of the skin.
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Article
Open AccessCan we improve outcome of congenital diaphragmatic hernia?
This review gives an overview of the disease spectrum of congenital diaphragmatic hernia (CDH). Etiological factors, prenatal predictors of survival, new treatment strategies and long-term morbidity are descri...
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Article
Development of an interphase fluorescent in situ hybridization (FISH) test to detect t(8;21) in AML patients
The translocation (8;21) is a chromosome abnormality associated with acute myeloid leukemia (AML). As a consequence of the translocation the AML1(CBFA2) gene in the 21q22 region is fused to the ETO(CDR,MTG8) gene...
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Chapter
Ph1 chromosome: cytogenetics and molecular aspects
In 1960, Nowell and Hungerford described for the first time an abnormal small chromosome, the Philadelphia chromosome (Ph1) in the leukemic cells of two patients with chronic myeloid leukemia (CML). Use of bandin...
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Chapter
Breakpoint Analysis in CML: Potentials for Detection of Minimal Residual Disease
Chronic myelocytic leukemia (CML) is a pluripotent stem cell disease characterized by the presence of the Philadelphia (Ph) chromosome in the leukemic cells of 96% of all CML patients. The Ph chromosome is the...
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Article
HLA-DR genoty** by restriction fragment length polymorphism analyses
We have established unique restriction fragment length polymorphism (RFLP) patterns characteristic of homozygous ty** cells (HTCs) for HLA-DR-1 through HLA-DR-8 haplotypes. These RFLP patterns were found to seg...
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Chapter and Conference Paper
Oncogenetic Aspects of Chronic Myelocytic Leukemia
Over the last several years, evidence has been accumulating that cellular oncogenes are involved in carcinogenesis, whatever its proximal cause. These genes constitute a functionally heterogeneous group that m...
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Chapter
Abstracts of Selected Posters
The analysis of chromosomes of mouse embryos permits detection of transmitted chromosome damage. The protocol involves the treatment of one parent (usually the male) with a clastogen, recovery of embryos and p...
