Publications
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis Vrije Universiteit Brussel
BACKGROUND: Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas.
METHODS: We analysed a total of 16 SNPs with a reported association with CRC in ...
Predicting normal tissue toxicity in radiotherapy : can we improve clinical decision-making? Ghent University
Compatible interventions for stone systems: an optimization problem Ghent University
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis Vrije Universiteit Brussel
Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes Vrije Universiteit Brussel KU Leuven University of Antwerp
We previously described an intragenic functional copy number variation (CNV) in complement receptor 1 (CR1) that is associated with Alzheimer disease (AD) risk. A recent study, however, reported a rare CR1 coding variant p.Ser1610Thr (rs4844609) associated with AD susceptibility, explaining the effect of genome wide association (GWA) top single nucleotide polymorphism rs6656401. We assessed the role of the Ser1610Thr variant in AD ...
Value-based healthcare in Lynch syndrome Vrije Universiteit Brussel
Lynch syndrome (LS), one of the most frequent forms of hereditary colorectal cancer (CRC), is caused by a defect in one of the mismatch repair (MMR) genes. Carriers of MMR defects have a strongly increased risk of developing CRC and endometrial cancer. Over the last few years, value-based healthcare has been introduced as an approach to the cost-effective delivery of measurable patient value over complete cycles of care. This requires all ...
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies Vrije Universiteit Brussel University of Antwerp
IMPORTANCE: While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders.
OBJECTIVE: To establish whether GBA1 mutations are a risk factor for dementia with Lewy bodies (DLB). DESIGN We compared genotype data on patients and controls from 11 centers. Data concerning ...
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations Vrije Universiteit Brussel
Hereditary paraganglioma is a benign tumor syndrome with an age-dependent penetrance. Carriers of germline mutations in the SDHB or SDHD genes may develop parasympathetic paragangliomas in the head and neck region or sympathetic catecholamine-secreting abdominal and thoracic paragangliomas (pheochromocytomas). In this study, we aimed to establish paraganglioma risk in 101 asymptomatic germline mutation carriers and evaluate the results of our ...