prof. Kathleen B Claes (PhD)

CRIG group leader
Kathleen Claes

Principal investigator - lab for research on familial cancer, Center for Medical Genetics (UGent)
Associate professor (Faculty of Medicine and Health Sciences)


Research focus

The most and best studied genes in the world are probably BRCA1 and BRCA2. Since their identification in 1994 en 1995, large improvements in the technologies allowed the identification of deleterious mutations in millions of breast cancer patients. Our research team strongly contributed to insights in the mutation spectrum and frequency in Belgian patients.

Through translational research our team aims to contribute to the improvement of the prevention, diagnosis and treatment of hereditary breast cancer by extensive molecular characterization of germline and somatic mutations. Besides the study of mutations/variants in the coding regions, research projects are ongoing to determine the role of variants in non-coding and regulatory regions. Furthermore, we have a major interest in the development of in vitro and in vivo functional tests to determine the clinical significance of genetic variants.

Besides hereditary breast cancer, our team also performs case-related research in the context of other familial cancer syndromes (hereditary colon cancer, pancreatic cancer, etc.)

Research team

Key publications

  • Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation. Breast Cancer Res. 2016. (PMID: 27184744)
  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016. (PMID: 26928228)
  • Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer. Adv Exp Med Biol. 2015. (PMID: 26530371)
  • Decoding NF1 Intragenic Copy-Number Variations. Am J Hum Genet. 2015. (PMID:  26189818)
  • Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. Hum Mutat. 2015. (PMID: 25504618)
  • Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014. (PMID: 25099575)
  • Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem. 2014. (PMID: 24212087)
  • Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. Breast Cancer Res Treat. 2012. (PMID: 22370629)
  • Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat. 2011. (PMID: 21305653)
  • Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene. Oncogene. 2002. (PMID: 12037674)


  • Center for Medical Genetics, Medical Research Building 1, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Gent, Belgium
  • prof. Claes is interested to receive invitations for presentations or talks