dr. Robin De Putter (MD)

My research focusses on cancer predisposition. It is estimated that between 5 – 10 %  of cancer patients carry a hereditary cancer predisposition syndrome (CPS). Recent reports even suggest at least 10 % of childhood cancer developed because of un underlying CPS. Hitherto, over 100 cancer predisposition genes have already been described, all are associated with different orphan diseases. 
Diagnosing cancer predisposition is clinically relevant for several reasons:

• it may influence choice of therapy
• predisposed patients are at increased risk for new primary malignancies an may benefit from adjusted surveillance
• as other relatives may also be at risk, predictive genetic testing can be offered to identify relatives that may benefit from surveillance and preventive measures
• finally, transmission of a mutation to offspring can be prevented with assisted reproductive techniques

However, multiple barriers impede adequate referral and diagnosis of CPSs in children with cancer. Several researchers have developed tools to help clinicians adequately identify patients at risk for a CPS. However, these tools have never been prospectively validated. 

My research project aims to study the best diagnostic strategy for identifying a CPS in children with cancer. Therefore we plan to prospectively validate the most promising referral tool (MIPOGG) in routine clinical practice. We will be using whole exome sequencing (WES) to broadly screen for cancer predisposition in our patients and will study the added value of transcriptomics. Finally, we will evaluate the psychosocial impact on patients and their family and will determine the optimal setting for genetic testing and counselling for CPS in children.
 

• Master in Medicine, UGent (2004 – 2011)
• Master in Internal Medicine, UGent (2011 – 2014)
• Master in Medical Oncology, UGent (2014 – 2017)
• Permanent Education Course in Human Genetics, BeSHG Postgraduate course (2017 – 2018)
• Member of clinical staff Department Medical Genetics Ghent (CMGG) specialized in cancer predisposition, UZ Ghent, (2017 – Ongoing)
• Member ComPerMed expert panel for Prostate Cancer and Breast Cancer (2018 – Ongoing)
• ERN GENTURIS member (2018 – Ongoing)
• Nationale guidelines workgroup for HBOC syndroom (2018 – Ongoing)
• Nationale guidelines workgroup for Lynch syndroom (2018 – Ongoing)
• Medical board member Stichting PTEN (2019 – Ongoing)
• National coordinator ERN GENTURIS (2019 – Ongoing) 
• Doctoral fellow at the lab of Kathleen Claes; researching cancer predisposition in patients childhood cancer (2021 – Ongoing)
   

• Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines. J Oncol. 2020. (PMID: 32655641)
   

• Lab address: Center for Medical Genetics, Medical Research Building 1, Ghent University Hospital (entrance 34), Corneel Heymanslaan 10, 9000 Gent, Belgium
• Website Lab Claes
• Center for Medical Genetics Ghent
• Cancer Centre: a multidisciplinary team is involved in the treatment of cancer patients and provides services for patients, researchers (e.g. Oncolunch), ...