My research interests revolve particularly around the discovery and classification of genetic mutations predisposing to haematological disorders  and familial cancers. I have been contributing to the field of hereditary syndromes since 1994, and am an author on 106 scientific publications, with an average impact factor  of  6,70. My work is directly translatable to the patient. My interests in the genetic counselling has directed my efforts towards the unclassified genetic variants (UVs), particularly in determining whether families with a UV in the BRCA1/2 genes have different clinical features than those with a known mutation. This has lead to the classification of a number of UVs found in the Dutch population using an easy-to-apply scoring system based on the cancer history of families, with important implications for cancer-prevention and screening strategies. I also coordinate projects to determine the influence of modifier genes on the phenotypes of hereditary cancer syndromes, including breast/ovarian cancer and Lynch syndrome. I am also conducting research aimed at understanding the biology underlying developmental abnormalities associated with hereditary cancer syndromes, using a systems biology (phenomics) approach. This has involved the demonstration of the role of ciliopathies in hereditary cancer - in particular FAP, published in 2009 in Lancet Oncology.