Breast Lesions of Uncertain Malignant PotentialNCT07428733
Gene Methylation for Diagnosis of Breast Lesions
A study testing Gene Methylation Analysis of BRCA1, RASSF1A and PTEN in people with Breast Lesions of Uncertain Malignant Potential and PTEN, run by Institute of Oncology Ljubljana at 1 site in Slovenia.
Trial summary
Breast lesions of uncertain malignant potential represent a diagnostic challenge, as conventional histopathological assessment does not always reliably distinguish between benign and malignant changes. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Breast Lesions of Uncertain Malignant Potential, PTEN
- What is being tested?
- Gene Methylation Analysis of BRCA1, RASSF1A and PTEN
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 401 participants
- Where
- 1 siteSlovenia
- Study dates
- 1 Sep 2024to 9 Jan 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Female patients aged 18 years or older.
- Patients referred for diagnostic evaluation of breast lesions of uncertain malignant potential.
- Availability of breast tissue samples obtained by diagnostic needle biopsy.
- Written informed consent for participation in the study.
Who cannot join
- Male patients.
- Patients younger than 18 years.
- Patients without breast lesions or without indication for diagnostic biopsy.
- Inadequate or insufficient tissue material for molecular analysis.
- Withdrawal of informed consent.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Diagnostic Significance of BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
Breast lesions of uncertain malignant potential represent a diagnostic challenge, as conventional histopathological assessment does not always reliably distinguish between benign and malignant changes.
The purpose of this prospective diagnostic study is to evaluate whether methylation patterns of selected breast cancer-related genes (BRCA1, RASSF1A, and PTEN) can help differentiate benign from malignant breast lesions.
Read more
Tissue samples obtained during diagnostic needle biopsy, and when applicable during surgical excision, will be analyzed for gene methylation status. The results will be compared with standard histopathological findings.
The study aims to improve diagnostic accuracy in breast lesions of uncertain malignant potential and contribute to better clinical decision-making in breast diagnostics.
Read the detailed description
Breast lesions of uncertain malignant potential (B3 category) pose a significant diagnostic challenge in clinical practice, as they carry a variable risk of malignancy and often lead to surgical excision despite a substantial proportion of benign outcomes.
Epigenetic alterations, particularly DNA methylation of tumor suppressor genes, are recognized as early events in breast carcinogenesis and may provide additional diagnostic information beyond conventional histopathology.
This prospective interventional diagnostic study investigates the diagnostic significance of methylation status of BRCA1, RASSF1A, and PTEN genes in breast lesions of uncertain malignant potential. Participants undergoing diagnostic evaluation for suspicious breast lesions will be enrolled after providing written informed consent.
Tissue samples obtained during diagnostic needle biopsy will be analyzed using molecular methods to determine gene methylation status. In cases where surgical excision is performed, methylation findings from needle biopsy specimens will be compared with those from surgical samples and correlated with final histopathological diagnosis.
The primary objective is to assess whether gene methylation patterns can distinguish benign from malignant breast lesions. Secondary objectives include evaluating concordance between needle biopsy and surgical specimens and analyzing differences in methylation profiles across histopathological lesion categories.
The study is conducted at the Institute of Oncology Ljubljana and does not influence clinical decision-making. All diagnostic and therapeutic procedures follow standard clinical practice.
- Being tested
- Gene Methylation Analysis of BRCA1, RASSF1A and PTEN
- Keywords
- breast lesions, gene methylation, BRCA1, diagnostic biomarkers, needle biopsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gene Methylation Analysis of BRCA1, RASSF1A and PTENDiagnostic test
Molecular analysis of BRCA1, RASSF1A, and PTEN gene methylation performed on breast tissue samples obtained during diagnostic procedures.
| Study group | Role | What they receive |
|---|---|---|
| Diagnostic Molecular Analysis Arm | Experimental | Not described Receives: Diagnostic Test: Gene Methylation Analysis of BRCA1, RASSF1A and PTEN |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic Accuracy (Sensitivity and Specificity) of BRCA1, RASSF1A and PTEN Methylation for Malignancy Detection in B3 Breast Lesions
Diagnostic accuracy of BRCA1, RASSF1A and PTEN gene methylation status measured in diagnostic needle biopsy tissue samples for predicting malignancy (malignant vs benign final diagnosis), using final histopathological diagnosis as the reference standard. Diagnostic performance will be reported as sensitivity and specificity (%), with additional diagnostic accuracy measures (PPV, NPV and AUC).
Measured: Baseline (needle biopsy) to final histopathological diagnosis (up to 12 months)
Secondary outcomes (1)
Concordance of BRCA1, RASSF1A and PTEN Methylation Status Between Needle Biopsy and Surgical Specimens
Agreement of BRCA1, RASSF1A and PTEN methylation status between diagnostic needle biopsy tissue samples and matched surgical excision specimens. Concordance will be assessed using percentage agreement (%) and Cohen's kappa coefficient (κ).
Measured: Up to 12 months after needle biopsy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2026
- Study start1 Sep 2024
- Primary completion31 Dec 2025
- Study completion9 Jan 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast Lesions of Uncertain Malignant PotentialStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- All participants undergo the same diagnostic molecular analysis of gene methylation as part of a single-group interventional diagnostic study.
- Masking
- None (open label)
- Enrolment
- 401 participants (actual)
Sponsor and investigators
- Lead sponsor
- Institute of Oncology Ljubljana
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07428733
- Sponsor's protocol ID
- OI-BRCA-METH-2024
- Other IDs
- ERIDNPVO-0048/2024
- Status last verified
- Feb 2026
- First submitted
- 4 Feb 2026
- Last updated
- 24 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Significance of BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
- ClinicalTrials.gov ID
- NCT07428733
- Acronym / sponsor ID
- OI-BRCA-METH-2024
- Keywords
- breast lesions, gene methylation, BRCA1, diagnostic biomarkers, needle biopsy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 401 participants (actual)
- Lead sponsor
- Institute of Oncology LjubljanaUniversity, hospital or other
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 31 Dec 2025 (actual)
- Study completion
- 9 Jan 2026 (actual)
- First posted
- 24 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Breast lesions of uncertain malignant potential represent a diagnostic challenge, as conventional histopathological assessment does not always reliably distinguish between benign and malignant changes.
The purpose of this prospective diagnostic study is to evaluate whether methylation patterns of selected breast cancer-related genes (BRCA1, RASSF1A, and PTEN) can help differentiate benign from malignant breast lesions.
Tissue samples obtained during diagnostic needle biopsy, and when applicable during surgical excision, will be analyzed for gene methylation status. The results will be compared with standard histopathological findings.
The study aims to improve diagnostic accuracy in breast lesions of uncertain malignant potential and contribute to better clinical decision-making in breast diagnostics.
Detailed description
Breast lesions of uncertain malignant potential (B3 category) pose a significant diagnostic challenge in clinical practice, as they carry a variable risk of malignancy and often lead to surgical excision despite a substantial proportion of benign outcomes.
Epigenetic alterations, particularly DNA methylation of tumor suppressor genes, are recognized as early events in breast carcinogenesis and may provide additional diagnostic information beyond conventional histopathology.
This prospective interventional diagnostic study investigates the diagnostic significance of methylation status of BRCA1, RASSF1A, and PTEN genes in breast lesions of uncertain malignant potential. Participants undergoing diagnostic evaluation for suspicious breast lesions will be enrolled after providing written informed consent.
Tissue samples obtained during diagnostic needle biopsy will be analyzed using molecular methods to determine gene methylation status. In cases where surgical excision is performed, methylation findings from needle biopsy specimens will be compared with those from surgical samples and correlated with final histopathological diagnosis.
The primary objective is to assess whether gene methylation patterns can distinguish benign from malignant breast lesions. Secondary objectives include evaluating concordance between needle biopsy and surgical specimens and analyzing differences in methylation profiles across histopathological lesion categories.
The study is conducted at the Institute of Oncology Ljubljana and does not influence clinical decision-making. All diagnostic and therapeutic procedures follow standard clinical practice.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- All participants undergo the same diagnostic molecular analysis of gene methylation as part of a single-group interventional diagnostic study.
| Arm | Type | Receives |
|---|---|---|
| Diagnostic Molecular Analysis Arm | Experimental | Diagnostic Test: Gene Methylation Analysis of BRCA1, RASSF1A and PTEN |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Female patients aged 18 years or older.
- Patients referred for diagnostic evaluation of breast lesions of uncertain malignant potential.
- Availability of breast tissue samples obtained by diagnostic needle biopsy.
- Written informed consent for participation in the study.
Key exclusion criteria (5 listed)
- Male patients.
- Patients younger than 18 years.
- Patients without breast lesions or without indication for diagnostic biopsy.
- Inadequate or insufficient tissue material for molecular analysis.
- Withdrawal of informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Gene Methylation Analysis of BRCA1, RASSF1A and PTENMolecular analysis of BRCA1, RASSF1A, and PTEN gene methylation performed on breast tissue samples obtained during diagnostic procedures. | Diagnostic test | Diagnostic Molecular Analysis Arm |
Primary outcome
Diagnostic Accuracy (Sensitivity and Specificity) of BRCA1, RASSF1A and PTEN Methylation for Malignancy Detection in B3 Breast Lesions
Time frame: Baseline (needle biopsy) to final histopathological diagnosis (up to 12 months)
Diagnostic accuracy of BRCA1, RASSF1A and PTEN gene methylation status measured in diagnostic needle biopsy tissue samples for predicting malignancy (malignant vs benign final diagnosis), using final histopathological diagnosis as the reference standard. Diagnostic performance will be reported as sensitivity and specificity (%), with additional diagnostic accuracy measures (PPV, NPV and AUC).
1 secondary outcome
Concordance of BRCA1, RASSF1A and PTEN Methylation Status Between Needle Biopsy and Surgical Specimens
Time frame: Up to 12 months after needle biopsy
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Feb 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Gene Methylation Analysis of BRCA1, RASSF1A and PTEN in people with Breast Lesions of Uncertain Malignant Potential and PTEN, run by Institute of Oncology Ljubljana at 1 site in Slovenia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Slovenia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic Accuracy (Sensitivity and Specificity) of BRCA1, RASSF1A and PTEN Methylation for Malignancy Detection in B3 Breast Lesions (time frame: Baseline (needle biopsy) to final histopathological diagnosis (up to 12 months)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Feb 2026.