Search results for: Lilian Vreede

Items from 1 to 9 out of 9 results

article

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Pilar Mur, Richarda M. De Voer, Rubén Olivera-Salguero, Sandra Rodríguez-Perales, more

Molecular Cancer > 2018 > 17 > 1 > 1-6

Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated aneuploidy and reminiscent dysmorphic traits of mosaic variegated aneuploidy syndrome. We performed a mutational analysis of BUB1 and BUB3 in 456 uncharacterized mismatch repair-proficient hereditary non-polyposis CRC families and 88 polyposis cases...

article

Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early‐onset colorectal cancer

Marc‐Manuel Hahn, Lilian Vreede, Sonja A. S. A Bemelmans, Erica van der Looij, more

Genes, Chromosomes and Cancer > 55 > 11 > 855 - 863

Germline mutations in BUB1B, encoding BUBR1, one of the crucial components of the spindle assembly checkpoint (SAC), have been shown to cause variable phenotypes, including the recessive mosaic variegated aneuploidy (MVA) syndrome, which predisposes to cancer. Reduced levels of the wild‐type BUBR1 protein have been linked to the development of gastrointestinal neoplasms. To determine whether mutations...

article

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

Richarda M. de Voer, Ad Geurts van Kessel, Robbert D.A. Weren, Marjolijn J.L. Ligtenberg, more

Gastroenterology > 2013 > 145 > 3 > 544-547

The spindle assembly checkpoint controls proper chromosome segregation during mitosis and prevents aneuploidy—an important feature of cancer cells. We performed genome-wide and targeted copy number and mutation analyses of germline DNA from 208 patients with familial or early-onset (40 years of age or younger) colorectal cancer; we identified haploinsufficiency or heterozygous mutations in the spindle...

article

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer

Ramprasath Venkatachalam, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Hans K. Schackert, more

Gastroenterology > 2010 > 139 > 6 > 2221-2224

article

Germline epimutation of the tumor suppressor gene PTPRJ in early onset familial colorectal cancer

Ramprasath Venkatachalam, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Hans K. Schackert, more

Cancer Genetics and Cytogenetics > 2010 > 203 > 1 > 59

article

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer

Roland P. Kuiper, Lilian Vreede, Ramprasath Venkatachalam, Chris Ricketts, more

Cancer Genetics and Cytogenetics > 2009 > 195 > 2 > 105-111

FBXW7 (alias CDC4) is a p53-dependent tumor suppressor gene that exhibits mutations or deletions in a variety of human tumors. Mutation or deletion of the FBXW7 gene has been associated with an increase in chromosomal instability and cell cycle progression. In addition, the FBXW7 protein has been found to act as a component of the ubiquitin proteasome system and to degrade several oncogenic proteins...

article

The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21WAF1/CIP1-mediated cell cycle delay

Klaas Medendorp, Jan J.M. van Groningen, Lilian Vreede, Lisette Hetterschijt, more

Experimental Cell Research > 2009 > 315 > 14 > 2399-2409

Previously, we found that in t(X;1)(p11;q21)-positive renal cell carcinomas the bHLH-LZ transcription factor TFE3 is fused to a novel protein designated PRCC. In addition, we found that the PRCCTFE3 fusion protein, which has retained all known functional domains of TFE3, acts as a more potent transcriptional activator than wild type TFE3. We also found that PRCCTFE3 expression confers in vitro and...

article

Functional identification of genes causing estrogen independence of human breast cancer cells

Ton Agthoven, Jos Veldscholte, Marcel Smid, Thecla L. A. Agthoven, more

Breast Cancer Research and Treatment > 2009 > 114 > 1 > 23-30

Endocrine treatment of breast cancer is widely applied and effective. However, in advanced disease cases, the tumors will eventually progress into an estrogen-independent and therapy-resistant phenotype. To elucidate the molecular mechanisms underlying this endocrine therapy failure, we applied retroviral insertion mutagenesis to identify the main genes conferring estrogen independence to human breast...

article

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene

Anita Bonne, Lilian Vreede, Roland P. Kuiper, Danielle Bodmer, more

Cancer Genetics and Cytogenetics > 2007 > 179 > 1 > 11-18

Our group and others had previously developed a high throughput procedure to map translocation breakpoints using chromosome flow sorting in conjunction with microarray-based comparative genomic hybridization (arrayCGH). Here we applied both conventional positional cloning and integrated arrayCGH procedures to the mapping of constitutional chromosome anomalies in four patients with renal cell cancer...

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Search results for: Lilian Vreede

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