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FIELD OF EXPERTISE
- Cancer predisposition
- Genetic counselling
- Oncology
- Cancer surveillance
- Clinical genetics
PROJECTS
Background
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
Unfortunately, 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.
Aim
My research project aims to study the best diagnostic strategy for identifying a CPS in children with cancer.
Strategy
We will prospectively validate the most promising referral tool (MIPOGG) in routine clinical practice. Additionally 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.
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
Unfortunately, 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.
Aim
My research project aims to study the best diagnostic strategy for identifying a CPS in children with cancer.
Strategy
We will prospectively validate the most promising referral tool (MIPOGG) in routine clinical practice. Additionally 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.
DEGREES
- BeSHG Postgraduate course: Permanent Education Course in Human Genetics (University Ghent, 2018)
- Master in Medical Oncology (University Ghent, 2017)
- Master of Internal Medicine (University Ghent, 2014)
- Master of Medicine (University Ghent 2011)
- Bachelor of Medicine (University Ghent, 2007)