Genetics of tumor predisposition and progression in breast cancer – Svetlana Bajalica Lagercrantz's Team

The research aims to understand tumor development to achieve improved patient handling in clinical oncology including: Genetic predisposition in hereditary cancer syndromes with focus on breast cancer

Our research

The overall aim for the research in this team is to achieve improved patient handling in clinical oncology with specific focus on lymphoma and breast cancer. Our projects concern the use of circulating tumor DNA as a biomarker for prediction and treatment in breast cancer; and characterization of mutations in the Swedish germ-line TP53 cohort.

More specifically the research focus in the different projects are:

Circulating Tumor DNA as a Biomarker for Breast Cancer.

There is growing confidence that the next generation of screening tests will be based on molecular biomarkers present in bodily fluids. It is based on evidence that tumors release significant amounts of free circulating DNA (ctDNA) into the blood stream due to cellular necrosis and apoptosis in the tumor. ctDNA bears the same genetic alterations as the tumor tissue, and genotyping of ctDNA in the serum provides an accurate picture of the genetic profile of the tumor. Since ctDNA is isolated from serum after a simple blood collection, one of the less invasive and most robust sampling procedures, it can be performed multiple times to monitor tumor progression during follow-up of breast cancer patients. Moreover, the same approach can be used to monitor tumor development in healthy high-risk mutation carriers.

The following questions are approached in this project:

- How ctDNA can be used as a biomarker for screening and for early detection of breast cancer in high-risk individuals with mutations in BRCA1, BRCA2 and TP53.
- How ctDNA can be used for follow up of breast cancer patients and detection of early relapse.
- How can genetic alterations found in ctDNA be used as surrogate biomarkers to improve investigation and management of breast cancer patients.
- How can ctDNA genotyping be used to complement and/or substitute to tumor genotyping for treatment decision.

The Swedish Constitutional TP53 Cohort

The Li-Fraumeni Syndrome (LFS) is associated with constitutional mutations in the TP53-gene, a rare disorder with a high risk of mainly osteosarcoma, soft tissue sarcomas, breast-, brain- and/or adrenocortical tumors, particularly in children and young adults. Germ-line mutations in TP53 have also been described as a cause of hereditary breast cancer. It is therefore important to characterize the TP53 families and to outline the mutation spectrum in families with LFS or LFS-like history versus those with only hereditary breast cancer.

Recent reports have indicated that mutation carriers may benefit from a surveillance program. In Sweden, a national clinical TP53 study group was formed in 2013. The overall objective is to improve the survival of these patients by establishing a nation-wide registry for families with TP53 mutations and to develop and implement a clinical surveillance program for molecularly defined LFS-families.

The overall aim of this project is to characterize and outline the impact of the germ-line TP53 mutations identified in families with a LFS tumor spectra compared to families with hereditary breast cancer in order to increase the knowledge of the disease panorama in these families. Furthermore, we want to develop and evaluate a surveillance program for families with a constitutional TP53 mutation in Sweden in order to increase the survival of these patients.



The present research is generously supported by grants from:

  • The Swedish Cancer Society
  • Karolinska Institutet and Stockholm County Council – Breast Cancer Theme Center (BRECT)
  • The Cancer Research Foundations of Radiumhemmet

Staff and contact

Group leader

All members of the group

Previous team members

Pedram Kharaziha, MD, PhD,  Present employment: Specialist in Clinical Genetis, Uppsal University Hospital
Anna Porwit, MD, Professor, Present employment: Specialist in Hematopathology and Professor, Lund
Emma Flordal-Thelander, PhD, Present employment: Medical operations Lead at Janssen Inc.
Mattias Berglund, PhD, Present employment: Senior lab manager at Department of BioNut, KI, Sweden


Svetlana Bajalica Lagercrantz
Department of Oncology-Pathology, KI, Karolinska University Hospital, Solna, Bioclinicum J6:20; SE-171 64, Stockholm, Sweden
Phone: +46-8 123 73930
Mobile: +46 73 509 76 31