Nicoline Hoogerbrugge

Prof Hoogerbrugge is chairing the European Reference Network of Genetic Tumour Risk Syndromes (ERN GENTURIS). She has the ambition of improving detection, diagnosis and treatment of hereditary cancer and preventing cancer in relatives.
Over the last 5 years here work has mainly focused on the implementation of current knowledge and finding new genetic factors for gastrointestinal cancer.
Prof Hoogerbrugge changed the diagnostic setting of hereditary colorectal cancer, by introducing Mismatch repair deficiency analysis (MSI/IHC) analysis for all newly diagnosed CRC or endometrial cancer patients diagnosed below a certain age limit. Since 2008 this was taken up in the Dutch guideline below age 50 and based on her research the guideline was changed to age 70 in 2016. This has led to an important increase in the recognition of Lynch syndrome (hereditary colorectal cancer).
She now works on improving the effectiveness and efficiency of the diagnostic setting for hereditary ovarian cancer.

She was among the very first who made and studied the effects of Apps for successfully improving the recognition of hereditary cancer by doctors and patients themselves in current practice.
She showed that patients and relatives themselves can act together with professionals for further improvement of the recognition of hereditary cancer.
Together with dr Marjolijn Ligtenberg and dr Roland Kuiper she worked successfully on the detection of new genetic factors for CRC. They found a new cause for Lynch syndrome: EPCAM deletions. Other causes they found for hereditary colorectal cancer were: heterozygous mutations in BUB1, BUB3 and FOCAD. In 2015 a new recessive cause for polyposis was found in one of the BER-genes: NTHL1.
Prof Hoogerbrugge now implements dendritic cell vaccinations healthy carries of a Lynch syndrome mutation. The first immunologic results are promising.