Emma Claeys

The rapid progress of next-generation sequencing (NGS) has greatly improved the detection of genetic variants associated with cancer risk. However, many variants cannot yet be classified as benign or pathogenic, leading to a growing number of variants of uncertain significance (VUS). This uncertainty limits the clinical value of genetic testing, as patients carrying a VUS cannot fully benefit from personalized risk assessment, targeted therapies, or informed genetic counseling.

My research focuses on homologous recombination (HR) genes (RAD51C, RAD51D and BRIP1), which germline pathogenic variants are linked to an increased risk of hereditary breast and ovarian cancer. However, diagnostic testing often identifies numerous VUS whose clinical relevance remains unclear.

To address this, I aim to create a high-throughput deep mutational scanning (DMS) framework. This technology enables parallel assessment of a large number of variants to determine their effect on protein function. By integrating these functional data with existing clinical and genetic information, we aim to improve the classification of VUS. This will enhance the interpretation of HR gene variants in hereditary breast and ovarian cancer diagnostics and contribute to more accurate risk prediction, informed genetic counseling, and optimized management of patients and their families.
 

I obtained a Master of Science in Bioscience Engineering: Cell and Gene Biotechnology in 2025 (UGent). In 2025 I became a doctoral fellow at the lab of Kathleen Claes and the lab of Sven Eyckerman.
 

• Lab address:
  VIB-UGent Center for Medical Biotechnology
  Technologiepark-Zwijnaarde 75, Building FSVMII
  9052 Zwijnaarde, Belgium
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• Emma Claeys is interested to receive invitations for presentations or talks