Breast CancerNCT07416500
BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
A study testing MS-MLPA Methylation Analysis in people with Breast Cancer and Breast Lesions of Uncertain Malignant Potential (B3 Lesions), run by Institute of Oncology Ljubljana at 1 site in Slovenia.
Trial summary
This prospective interventional diagnostic study evaluates the clinical utility of methylation analysis of BRCA1, RASSF1A and PTEN genes in breast lesions of uncertain malignant potential (B3 lesions). Read more about this study
- Who is it for?
- Ages 40 years and older, women only
- Conditions the study is for
- Breast Cancer, Breast Lesions of Uncertain Malignant Potential (B3 Lesions)
- What is being tested?
- MS-MLPA Methylation Analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 301 participants
- Where
- 1 siteSlovenia
- Study dates
- 1 Sep 2024to 30 Jun 2025
- 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 40 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Female participants aged 40 years or older
- Suspicious non-palpable breast lesion referred for diagnostic evaluation at the Institute of Oncology Ljubljana
- Undergoing image-guided core needle biopsy or surgical excision as part of standard diagnostic work-up
- Availability of sufficient breast tissue sample for methylation analysis Signed written informed consent
Who cannot join
- Contraindications to standard diagnostic procedures
- Insufficient tissue sample 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
This prospective interventional diagnostic study evaluates the clinical utility of methylation analysis of BRCA1, RASSF1A and PTEN genes in breast lesions of uncertain malignant potential (B3 lesions).
Women with suspicious non-palpable breast lesions undergo standard diagnostic procedures including clinical examination, imaging assessment, and image-guided core needle biopsy when indicated.
Read more
As part of the study protocol, breast tissue samples are prospectively assigned to additional molecular diagnostic testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).
The study evaluates whether gene promoter methylation status improves diagnostic assessment by comparing methylation results with final histopathological diagnosis.
Read the detailed description
Breast cancer is the most common malignancy in women. Epigenetic alterations, particularly DNA promoter methylation of tumor suppressor genes, play an important role in breast carcinogenesis and may occur early in disease development.
This single-center prospective interventional diagnostic study is conducted at the Institute of Oncology Ljubljana. Participants are women with suspicious non-palpable breast lesions referred through the Slovenian national screening program DORA or other diagnostic pathways.
All participants undergo standard diagnostic work-up, including:
- clinical breast examination,
- breast imaging (mammography and/or ultrasound),
- image-guided core needle biopsy when indicated.
Breast tissue samples obtained during biopsy or surgical excision are prospectively assigned to additional molecular testing using MS-MLPA to determine methylation status of BRCA1, RASSF1A and PTEN.
Histopathological classification includes:
- benign lesions,
- lesions of uncertain malignant potential (B3 lesions),
- malignant lesions.
The primary objective is to evaluate the diagnostic performance of methylation analysis compared with histopathological diagnosis.
Statistical analysis will be performed using SPSS and GraphPad Prism. Sensitivity, specificity, positive predictive value, and negative predictive value will be calculated. Group comparisons will be performed using chi-square test or Fisher's exact test. Statistical significance is defined as p < 0.05.
- Being tested
- MS-MLPA Methylation Analysis
- Keywords
- BRCA1, RASSF1A, PTEN
- Medical subject headings
- Breast Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MS-MLPA Methylation AnalysisDiagnostic test
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is performed on breast tissue samples obtained during routine diagnostic procedures. The assay determines promoter methylation status of BRCA1, RASSF1A and PTEN. Results are compared with the final histopathological diagnosis to evaluate diagnostic performance.
| Study group | Role | What they receive |
|---|---|---|
| MS-MLPA Methylation Analysis | Experimental | Participants undergo standard diagnostic evaluation for suspicious non-palpable breast lesions. Breast tissue samples obtained during image-guided core needle biopsy or surgical excision are prospectively assigned to additional molecular testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to determine promoter methylation status of BRCA1, RASSF1A and PTEN. Receives: Diagnostic Test: MS-MLPA Methylation Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis
Sensitivity (%), specificity (%), positive predictive value (%) and negative predictive value (%) of methylation status determined by MS-MLPA for detection of malignant breast lesions compared with histopathological diagnosis.
Measured: Up to June 2025
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2026
- Study start1 Sep 2024
- Primary completion30 Jun 2025
- Study completion30 Jun 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Breast CancerStudies 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 standard diagnostic procedures and molecular methylation analysis (MS-MLPA) of BRCA1, RASSF1A and PTEN in breast tissue samples.
- Masking
- None (open label)
- Enrolment
- 301 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
- NCT07416500
- Sponsor's protocol ID
- OI-B3METH-2024-01
- Other IDs
- 0120-215/2024-2711-4
- Status last verified
- Feb 2026
- First submitted
- 10 Feb 2026
- Last updated
- 25 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 25 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
- NCT07416500
- Acronym / sponsor ID
- OI-B3METH-2024-01
- Keywords
- BRCA1, RASSF1A, PTEN
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 301 participants (actual)
- Lead sponsor
- Institute of Oncology LjubljanaUniversity, hospital or other
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 30 Jun 2025 (actual)
- Study completion
- 30 Jun 2025 (actual)
- First posted
- 18 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.
This prospective interventional diagnostic study evaluates the clinical utility of methylation analysis of BRCA1, RASSF1A and PTEN genes in breast lesions of uncertain malignant potential (B3 lesions).
Women with suspicious non-palpable breast lesions undergo standard diagnostic procedures including clinical examination, imaging assessment, and image-guided core needle biopsy when indicated.
As part of the study protocol, breast tissue samples are prospectively assigned to additional molecular diagnostic testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).
The study evaluates whether gene promoter methylation status improves diagnostic assessment by comparing methylation results with final histopathological diagnosis.
Detailed description
Breast cancer is the most common malignancy in women. Epigenetic alterations, particularly DNA promoter methylation of tumor suppressor genes, play an important role in breast carcinogenesis and may occur early in disease development.
This single-center prospective interventional diagnostic study is conducted at the Institute of Oncology Ljubljana. Participants are women with suspicious non-palpable breast lesions referred through the Slovenian national screening program DORA or other diagnostic pathways.
All participants undergo standard diagnostic work-up, including:
- clinical breast examination,
- breast imaging (mammography and/or ultrasound),
- image-guided core needle biopsy when indicated.
Breast tissue samples obtained during biopsy or surgical excision are prospectively assigned to additional molecular testing using MS-MLPA to determine methylation status of BRCA1, RASSF1A and PTEN.
Histopathological classification includes:
- benign lesions,
- lesions of uncertain malignant potential (B3 lesions),
- malignant lesions.
The primary objective is to evaluate the diagnostic performance of methylation analysis compared with histopathological diagnosis.
Statistical analysis will be performed using SPSS and GraphPad Prism. Sensitivity, specificity, positive predictive value, and negative predictive value will be calculated. Group comparisons will be performed using chi-square test or Fisher's exact test. Statistical significance is defined as p < 0.05.
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 standard diagnostic procedures and molecular methylation analysis (MS-MLPA) of BRCA1, RASSF1A and PTEN in breast tissue samples.
| Arm | Type | Receives |
|---|---|---|
| MS-MLPA Methylation Analysis | Experimental | Diagnostic Test: MS-MLPA Methylation AnalysisParticipants undergo standard diagnostic evaluation for suspicious non-palpable breast lesions. Breast tissue samples obtained during image-guided core needle biopsy or surgical excision are prospectively assigned to additional molecular testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to determine promoter methylation status of BRCA1, RASSF1A and PTEN. |
Who may qualify
- Ages
- 40 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Female participants aged 40 years or older
- Suspicious non-palpable breast lesion referred for diagnostic evaluation at the Institute of Oncology Ljubljana
- Undergoing image-guided core needle biopsy or surgical excision as part of standard diagnostic work-up
- Availability of sufficient breast tissue sample for methylation analysis Signed written informed consent
Key exclusion criteria (3 listed)
- Contraindications to standard diagnostic procedures
- Insufficient tissue sample 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 |
|---|---|---|
| MS-MLPA Methylation AnalysisMethylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is performed on breast tissue samples obtained during routine diagnostic procedures. The assay determines promoter methylation status of BRCA1, RASSF1A and PTEN. Results are compared with the final histopathological diagnosis to evaluate diagnostic performance. | Diagnostic test | MS-MLPA Methylation Analysis |
Primary outcome
Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis
Time frame: Up to June 2025
Sensitivity (%), specificity (%), positive predictive value (%) and negative predictive value (%) of methylation status determined by MS-MLPA for detection of malignant breast lesions compared with histopathological diagnosis.
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 25 Feb 2026.
- Individual participant dataSharing planned: No
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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 MS-MLPA Methylation Analysis in people with Breast Cancer and Breast Lesions of Uncertain Malignant Potential (B3 Lesions), 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 3 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 25 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 Performance of BRCA1, RASSF1A and PTEN Methylation Analysis (time frame: Up to June 2025). 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 25 Feb 2026.