Short summary

Several studies have shown the potential of ctDNA methylation as a prognostic tool in breast cancer with the gene methylation pattern predicting outcome. We will examine the applicability of methylated ctDNA in the routine follow-up of breast cancer patients. Methylated ctDNA will be evaluated as an instrument in the selection of patients to benefit from further adjuvant therapy due to remaining microscopic disease. This study will pave the way for a study on early onset therapy in the event of significant changes of methylated ctDNA. 

Rationale

The applicability of plasma ctDNA in breast cancer is somewhat limited, since breast cancer is characterized by many different mutations. The identification of mutations by NGS and the subsequent quantification by PCR is a labour intensive and costly approach. 

Instead, aberrant methylation resulting in repression of tumor suppressor genes or activation of oncogenes could be a more consistent marker of tumor DNA. Methylation is often specified by DNA sequences alone and is thereby a common feature of several cancer types and tumors with different mutations. Several studies have shown the potential of ctDNA methylation as a prognostic tool in breast cancer with the gene methylation pattern predicting outcome.

This study will examine the applicability of methylated ctDNA in the routine follow-up of breast cancer patients. Methylated ctDNA will be evaluated as an instrument in the selection of patients to benefit from further adjuvant therapy due to remaining microscopic disease. Furthermore, this study will pave the way for a study on early onset therapy in the event of significant changes of methylated ctDNA in early breast cancer without clinical evidence of recurrence. 

Description of the cohort

1144 women with breast cancer: 880 in the adjuvant setting and 264 in the neoadjuvant setting.

Data and biological material

Clinical data: primary diagnosis of breast cancer and localizations of metastasees. 

Blood: plasma and serum

Collaborating researchers and departments

Department of Oncology, University Hospital of Southern Denmark, Vejle:

• Principal Investigator, ConsultantTroels Bechmann, Postdoc
• Sponsor,  Consultant Erik Hugger Jakobsen
• Professor Anders Jakobsen, DMSc

Department of Biochemistry and Immunology, University Hospital of Southern Denmark, Vejle:

• Head and Consultant Jonna Skov Madsen, PhD
• Molecular Biologist Rikke Fredslund Andersen