Cancer Genetics

PI Emma Tham, Senior researcher

Genetic alterations underlie all forms of cancer: in most cases, these changes are somatic and give rise to sporadic cancer. In 10% of cases, they are inherited and constitutional and cause hereditary cancer. Individuals carrying a predisposing genetic variant have an increased risk of developing cancer (and sometimes other symptoms) and benefit from prevention schemes. However, as most hereditary cancer is rare, knowledge regarding the causative genes, as well as evidence regarding cancer risks and surveillance are lacking.

When tumor cells die, they release their DNA into body fluids such as blood and thus it is possible to detect their genetic alterations in a blood sample (so called liquid biopsy). These cell-free tumor DNA (ctDNA) fragments make up a minor proportion of the cell free DNA fragments that mostly derive from the blood cells and therefore, very sensitive methods are required in order to detect them. ctDNA has the potential to revolutionize cancer diagnostics and are of particular relevance in high-risk individuals with cancer predisposition. ctDNA may also serve as a predictive biomarker that can be used to monitor therapy response and minimal residual disease in sporadic cancers.

Our research involves the following studies:

The Cancer Predisposition study (CAP) aims to systematically include all individuals with rare hereditary cancer, with and without a genetic cause. The aims are:

  1. To discover new genetic causes for hereditary cancer using the novel massive parallel DNA/RNA sequencing techniques
  2. To characterize rare cancer syndromes in order to offer personalized prevention

SWEP53: Molecular Characterization and Clinical Aspects of Germline TP53 Mutations in the Swedish Constitutional TP53 Cohort (national study, ISRCTN13103571). Collaboration project with Associate Prof. Svetlana Lagercrantz, Dept of Oncology and Pathology. The aims are to:

  1. Characterize the constitutional TP53 cohort in Sweden
  2. Evaluate the medical and psychosocial effects of rapid whole-body; brain and breast MRI as surveillance
  3. Evaluate liquid biopsy as a complement to clinical and radiological surveillance

Cell-free tumor DNA for early diagnosis, prognosis and monitoring of cancer. The aims are to:

  1. Evaluate ctDNA as a complement to clinical and radiological surveillance in individuals with hereditary predisposition for cancer
  2. Evaluate ctDNA as a prognostic biomarker prior to surgery in patients with cancer
  3. Evaluate ctDNA as a complement to clinical and radiological surveillance in following therapy response, monitoring minimal residual disease and detecting relapse       

Our team also participates in other studies that aim to improve the diagnosis of hereditary cancer through optimized genetic characterization of specific cancer types and improved genetic counselling.

We work closely with Clinical Genetics at Karolinska University Hospital on molecular diagnosis and monitoring of hematological malignancies and investigation of patients with hereditary cancer. We are also active in Genomic Medicine Sweden (GMS) and Genomic Medicine Centre Karolinska (GMCK) within solid tumors and liquid biopsy and involved in the European Reference Network for Genetic Tumor Risk Syndromes (GENTURIS).

Team Members

Emma Tham

PI, Senior researcher, senior consultant in clinical genetics
Clinical Genetics
K1 Department of Molecular Medicine and Surgery

Cecilia Arthur

PhD student, resident in clinical genetics
Clinical Genetics
K1 Department of Molecular Medicine and Surgery

Karin Wallander

PhD student, resident in clinical genetics
Clinical Genetics
K1 Department of Molecular Medicine and Surgery

Cecilia Ström

PhD, Project coordinator
Clinical Genetics
K1 Department of Molecular Medicine and Surgery

Lars Sivars

Post-doc, internship at Karolinska University Hospital
Clinical Genetics
K1 Department of Molecular Medicine and Surgery

Collaboration with:

Bianca Tesi

Post-doc, resident in clinical genetics
Rare Diseases
K1 Department of Molecular Medicine and Surgery