Diagnostic significance of BRCA1, RASSF1A and PTEN gene methylation in lesions of uncertain malignant potential

We will examine the role of changes in specific genes in the development and diagnosis of breast cancer.

Genetic changes play a very important role in the development of cancer. In addition to genetic changes, changes in gene expression also play an important role, even when the genetic code itself remains unchanged. DNA methylation refers to a change in gene expression that can switch individual genes on or off. When a gene is switched off, it is considered silenced. Certain silenced genes, or combinations of silenced genes, may contribute to the development of breast cancer.

Purpose of the study

The aim is to reduce the number of unnecessary diagnostic surgical biopsies, as these can cause distress for women, unnecessary absence from work, risk of complications, and potentially painful scarring with a poor aesthetic outcome.

If new genetic markers are identified that could help in deciding whether surgical biopsy is needed for lesions of uncertain malignant potential, it may be possible in the future to reduce the number of unnecessary diagnostic surgical procedures.

Study procedure

As part of the diagnostic assessment of suspicious breast lesions, a clinical examination, imaging tests and needle biopsy are performed. If mammography, an imaging test, shows a suspicious breast lesion, a needle biopsy of the lesion is performed, followed by histological examination of the tissue sample.

If the findings suggest breast cancer, surgical diagnostic assessment and treatment are performed to confirm the diagnosis. If an association is found between specific genetic changes and imaging findings, it may in the future be possible to determine more precisely who should be referred for a diagnostic surgical procedure and who should not, thereby reducing the number of diagnostic surgical procedures.

Who can take part?

Women undergoing needle biopsy due to mammographically suspicious lesions as part of the DORA screening programme, aged 50 to 60 years, or women assessed by the multidisciplinary team for non-palpable breast lesions at the Institute of Oncology Ljubljana, with no age restriction.

How to apply?

If you are interested in participating or would like to find out more, please speak with your physician at the Institute of Oncology Ljubljana or contact the study staff by email at [email protected].

Participation in the study is entirely voluntary and may be withdrawn at any time without any consequences. Your identity will remain anonymous, and participation in the study does not pose any risk to your health.

Participation in the study represents an important contribution to the development of new diagnostic options.