Published: 15-12-2021 11:08 | Updated: 15-12-2021 11:11

New thesis on cell-free DNA and hereditary cancer

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Illustration av Gerd Altmann, Pixabay, Public Domain CC0

Karin Wallander at the research group Clinical Genetics, Department of Molecular Medicine and Surgery, will defend her thesis "Hereditary predisposition and prognostic prediction in cancer" on December 17, 2021. Main Supervisor is Emma Tham.

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Karin Wallander, Clinical Genetics

What's the main focus of your thesis?

The studies of my thesis focus on cell-free DNA (DNA released into the blood from cancer cells and other cells) and hereditary cancer. We analyse blood samples from patients with stomach cancer and develop a method aiming at finding cancer-associated genetic changes in cell-free DNA. We investigate hereditary causes for rectal cancer and we contribute to the discussion on whether patients with multiple tumours should be offered whole-genome sequencing.

Which are the most important results?

It is possible to find cancer-associated genetic changes in cell-free DNA by our method. In our study of patients with multiple tumours, we found that re-analysis of already performed clinical genetic analyses might be beneficial in some cases. In a family with many cases of rectal cancer, we found genetic variants that could contribute to the increased cancer risk.

How can this new knowledge contribute to the improvement of people’s health?

Our studies increase the knowledge about cell-free DNA. Analysis of cell-free DNA will probably be offered as a widespread clinical test soon, and then the clinical pipeline we have created would quickly be ready for implementation. Our studies also increase the knowledge about hereditary cancer, and can help improve the oncogenetic care. We suggest structured re-evaluation of already performed clinical genetic tests with no findings, if the patient fulfills the testing criteria for a specific cancer syndrome.

What are your future ambitions?

Our research group aims at being able to implement cell-free DNA analysis in the clinical setting for a wide range of cancer types. We have multiple ongoing studies, focusing on different cancer types and different analysis methods.

Me personally, I wish to continue to do research in the oncogenetic field, and keep the clinical perspective.