prof. dr. ir. Kathleen Claes
work address
C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent
9000 Gent
ORCID iD
https://orcid.org/0000-0003-0841-7372
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- 2018
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
- Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits
- Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
- The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei
- 2017
- In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
- In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
- Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR
- Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
- Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848