Personal profile
Expertises
With an educational background in molecular cancer biology, a PhD in molecular diagnostics and tumor signaling pathways and 5 years of post doc experience in epidemiology, clinical genetics, bioinformatics, and cancer immunology, I have investigated several aspect of hereditary non-polyposis colorectal cancer (HNPCC) with the aim to characterize different tumor subsets for precision medicine. As a senior scientist, I have focused more on the immunotherapeutic potential in Lynch syndrome cancer patients and aid in the daily management of the national Danish HNPCC register.
Main research areas
Colorectal cancer is the third most common cancer type in the world with more than 1 million new diagnoses each year. Approximately 20% is estimated to be caused by hereditary factors and 5% are caused by known germline mutations. The Danish HNPCC Register holds more than 7000 Danish families with verified or suspected genetic defects, who are at increased risk of developing primarily colorectal cancer, but also cancer in other organs. We wish to identify the genetic causes of colorectal cancer, to refine colonoscopic surveillance programs, to investigate the genetic alterations and features that promote tumor development, to estimate phenotype-specific risk for tumor development in different organs, and to elucidate the immunotherapeutic potential in Lynch syndrome cancer patients.
Current research
The HNPCC Register holds 7 distinct family subtypes. Each of these subtypes has specific issues to be addressed. In the families with yet unidentified genetic defects (FCCTX and Late Onset), we are applying next generation sequencing methods to search for new cancer genes that can explain their increased risk of colorectal cancer. In the families with verified genetic mutations (Lynch syndrome), we are estimating the phenotype-specific risk of extra-colonic cancer and investigating different prognostic and treatment-predictive biomarkers.
Curriculum
Education and positions
2018- : Senior scientist and daily manager in the Danish HNPCC register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark
2014-2018: Postdoc, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark
2013-2014: Postdoc, Department of Oncology and Pathology, Lund University, Sweden
2008-2013: PhD in molecular diagnostics, Faculty of Health Sciences, Copenhagen University, Title: Genomic profiling of Lynch syndrome and familial colorectal cancer type X. Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark
2008: Research assistant, Clinical Research Unit, Hvidovre Hospital, Denmark
2007: Master degree in biochemistry, Faculty of Science, Copenhagen University. Title: HU-induced cell cycle arrest and apoptosis in lymphoblastoid cells. Department of Cell Cycle and Cancer, The Danish Cancer Society, Denmark
Teaching and areas of guidance
PhD and Master students
2 PhD students (co-supervisor)
3 Master students (main supervisor)
Publications
26 peer-reviewed original articles, 2 reviews, 1 national publication
Journal reviewer
Peer-reviewer for 8 journals
Memberships
International Society for Hereditary Gastrointestinal Cancer
European Hereditary Tumor Group
International Mismatch Repair Consortium
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Collaborations and top research areas from the last five years
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Circulating Tumor DNA in Addition to Fecal Immunochemical Test in a Dual-Test Colorectal Cancer Screening Approach
Kahn, C. L., Petersen, M. M., Kleif, J., Mansvelders, M. S. E., Rasmussen, M., Jørgensen, L. N., Vilandt, J., Seidelin, J. B., Jaensch, C., Bondeven, P., Gotschalck, K. A., Løve, U. S., Andersen, B., Christensen, I. J., LaPoint, L. C. & Therkildsen, C., Jun 2025, In: Clinical Colorectal Cancer. 24, 2, p. 310-319.e1Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Completeness of colorectal cancer registration in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register
Lindberg, L. J., Bernstein, I., Møller, H., Sunde, L. & Therkildsen, C., 28 Jun 2025, In: Familial Cancer. 24, 3, p. 57 57.Research output: Contribution to journal › Journal article › Research › peer-review
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Cross-dataset pan-cancer detection by correlating cell-free DNA fragment coverage with open chromatin sites across cell types
Olsen, L. R., Odinokov, D., Holsting, J. Q., Kondrup, K., Iisager, L., Rusan, M., Buus, S., Laursen, B. E., Borre, M., Jochumsen, M. R., Bouchelouche, K., Frydendahl, A., Rasmussen, M. H., Henriksen, T. V., Nesic, M., Demuth, C., Lindskrog, S. V., Nordentoft, I., Lamy, P. & Therkildsen, C. & 5 others, , Dec 2025, In: Nature Communications. 16, 1, 11522.Research output: Contribution to journal › Journal article › Research › peer-review
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Detection of circulating tumor DNA in colorectal cancer patients using a methylation-specific droplet digital PCR multiplex
do Canto, L. M., Raunkilde, L., Lindebjerg, J., Aagaard, M. M., Therkildsen, C., Kleif, J., Jensen, L. H., Hansen, T. F. & Andersen, R. F., 14 Nov 2025, (E-pub ahead of print) In: Molecular Oncology.Research output: Contribution to journal › Journal article › Research › peer-review
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Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers
Medina, J. E., Annapragada, A. V., Lof, P., Short, S., Bartolomucci, A. L., Mathios, D., Koul, S., Niknafs, N., Noe, M., Foda, Z. H., Bruhm, D. C., Hruban, C., Vulpescu, N. A., Jung, E., Dua, R., Canzoniero, J. V., Cristiano, S., Adleff, V., Symecko, H. & van den Broek, D. & 15 others, , 1 Jan 2025, In: Cancer Discovery. 15, 1, p. 105-118 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
30 Citations (Scopus)