The main aim of research in this section is to identify the role of genetic variation in causing heritable or familial forms of cancer. It includes research to discover new genes involved in this predisposition, as well as research to unravel the functional impact of genetic variation on protein function and its connection to cancer predisposition.
The functional work includes in vitro models (cell lines) as well as mouse models. In terms of cancer types, our research focuses on breast cancer and paragangliomas.
The functional impact of variants of uncertain significance in BRCA2
Frequent Homologous Recombination Deficiency in High-grade Endometrial Carcinomas
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Association analysis identifies 65 new breast cancer risk loci
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2
Gene-panel sequencing and the prediction of breast-cancer risk
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
Prof.dr. Peter Devilee
Principal Investigator / Professor Tumor Genetics
Dr. Maaike P.G. Vreeswijk
Jean-Pierre L. Bayley
Merel E. Braspenning