Department and Faculty
Department of Clinical Research, Faculty of Health Science
Clinical genome center is a core facility for genome profiling and bioinformatics funded by OUH and SDU.
Projects in breast cancer genetics are supported by the Danish cancer society, Regionernes Medicinpulje and the Danish Research Council.
To perform more personalized risk prediction of cancer patients on many different levels:
A. Germline risk prediction by genetic testing including polygenic risk score
B. Improved interpretation of variants of unknown significance
C. Prediction of outcome for cancer patients by molecular tumor profiling.
D. prediction of treatment response by profiling of somatic mutational signatures.
Furthermore, a major aim is to get a deeper biological understanding of different molecular subtypes, clonal composition of tumors, tumor evolution and metastasis.
The techniques applied are global profiling of RNA and DNA by bulk sequencing and single cell sequencing.
Three key publications
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Thomassen M, Mesman RLS, Hansen TVO, ..., Spurdle AB
Hum Mutat., 2022; 43(12): 1921-1944
Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence
Krøigård AB, Larsen MJ, Brasch-Andersen C, Lænkholm A, Knoop AS, Jensen JD, Bak M, Mollenhauer J, Thomassen M, Kruse TA
Sci Rep., 2017; 7: 43813
Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling
Larsen MJ, Kruse TA, Tan Q, Lænkholm A, Bak M, Lykkesfeldt AE, Sørensen KP, Hansen TVO, Ejlertsen B, Gerdes A, Thomassen M
PLoS One, 2013; 8(5): e64268