Lobular Breast CarcinomaLobularCardNCT05410951
LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients
An observational study of Lobular Breast Carcinoma and Lobular in Situ Breast Carcinoma, run by European Institute of Oncology at 1 site in Italy.
Trial summary
This is a cross-sectional and retrospective study of a cohort of patients with invasive lobular breast cancer (LBC) or in situ lobular neoplasia (LIN3). The main endpoint is the relative frequency of patients with a germline mutation using a recent panel including 113 genes from the "Illumina" protocol. Read more about this study
- Who is it for?
- Ages 18 to 99 years, women only
- Conditions the study is for
- Lobular Breast Carcinoma, Lobular in Situ Breast Carcinoma, BRCA1 Mutation
- What is being tested?
- Illumina panel
- How many people
- 800 participants
- Where
- 1 siteItaly
- Study dates
- 16 May 2022to 16 May 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 to 99 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for BC, with blood sample available in European Institute of Oncology biobank
Who may be able to join
- All LBC observed retrospectively at the European Institute of Oncology, with a proved diagnosis of LBC (biopsy or operated)
- Patients with blood available in biobank Exclusion criteria
- Patients with a previous cancer (except skin basal cell carcinoma)
- Patients with ductal or mixed BC
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
This is a cross-sectional and retrospective study of a cohort of patients with invasive lobular breast cancer (LBC) or in situ lobular neoplasia (LIN3).
The main endpoint is the relative frequency of patients with a germline mutation using a recent panel including 113 genes from the "Illumina" protocol.
Read more
In case of identification of a novel pathogenetic germline mutations, a personalized follow-up will be offered to each patient (in case of genes at moderate-, low-penetrance), or prophylactic mastectomy (in case of genes at high-penetrance).
Breast screening in moderate-, low-penetrance mutated patients should be performed periodically using digital mammography, ultrasound and MRI, and will be routinely observed.
Patients will be scheduled for follow-up at six-month intervals for 5 years at our outpatient clinic, and yearly thereafter
Read the detailed description
Pathogenic or likely pathogenic variants (commonly referred to as mutations) in high-penetrance breast cancer (BC) susceptibility genes increase the risk of BC more than fourfold. Germline mutations in BRCA1 or BRCA2 (BRCA1/2) are found in 3% to 4% of all women with BC, including 10% to 20% of those with triple-negative breast cancer (TNBC) and 10% to 15% of Jewish women with BC.
Recent international guidelines consider only a small group of gene as high-penetrance risk: BRCA1/2, CDH1, PTEN, and PALB2 [2], the remaining are classified as moderate-, low-penetrance risks.
There are no specific associations between these germline mutations and BC histotypes. In accord with recent genetic results reported in literature, lobular histotype seems associated with a specific germline pathway.
We hypothesize that other genes are associated with a susceptibility for lobular breast carcinoma (LBC) predisposition and that novel genetic factors should be described, especially in subjects with early onset of LBC.
In this context we selected a recent panel including 113 genes from the "Illumina" protocol.
The screening analysis will be performed by Next Generation Sequencing (NGS) technology using the TruSight Hereditary Cancer panel (Illumina) to analyze the entire coding regions of 113 genes selected genes and 125 SNPs, starting from 50 ng of gDNA extracted with MagCore HF16 Plus (Diatech Labline).
The proposed project is scheduled in three major tasks:
- Data collection, including family history assessment and pedigree analysis for eligible subjects deserving genetic screening; 2) Genomic characterization of LBC in subjects with germline mutation; 3) Evaluation of disease-free survival and overall survival in subjects with germline mutation and establishment of a specific clinical follow-up for these patients.
- Conditions
- Lobular Breast Carcinoma, Lobular in Situ Breast Carcinoma, BRCA1 Mutation, BRCA2 Mutation
- Being tested
- Illumina panel
- Medical subject headings
- Carcinoma, Lobular, Breast Carcinoma In Situ
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Illumina panelDiagnostic test
Determination of germline mutations using a recent panel including 113 genes from the "Illumina" protocol
What is being measured
The primary outcome is the main question the study is designed to answer.
Relative frequency of patients with a germline mutation
Frequency of germline mutation status in patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for breast cancer
Measured: 1 month
Secondary outcomes (4)
Correlation of clinic-pathological data between genes at high-penetrance versus other genes
correlation of clinic-pathological data between genes at high-penetrance (BRCA1/2, CDH1, PTEN, and PALB2) vs. other genes
Measured: 1 month
Prevalence of germline mutation status by clinical strata
Prevalence of germline mutation status by early onset LBC (age <45 years), bilateral LBC, LBC with family history for breast cancer
Measured: 1 month
Association with disease free survival and overall survival
prognostic role of mutation status: the association with disease free survival and overall survival
Measured: 5 years
Association of mutation status with molecular subtypes
association of mutation status with molecular subtype of primary tumor (Luminal A, Luminal B, Basal-like, HER2-enriched)
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jun 2022
- Study start16 May 2022
- Primary completion31 Dec 2025 (estimated)
- Study completion16 May 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lobular Breast CarcinomaStudies of the same condition, open and under way.
- More trials run by European Institute of OncologyThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- European Institute of Oncology
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giovanni Corso, PhD, MD, Principal investigator, European Institute of Oncology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05410951
- Sponsor's protocol ID
- IEO 1730
- Acronym
- LobularCard
- Status last verified
- Nov 2025
- First submitted
- 6 Jun 2022
- Last updated
- 4 Dec 2025
- 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 4 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients
- ClinicalTrials.gov ID
- NCT05410951
- Acronym / sponsor ID
- LobularCard / IEO 1730
- Conditions
- Lobular Breast Carcinoma, Lobular in Situ Breast Carcinoma, BRCA1 Mutation, BRCA2 Mutation
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 800 participants (estimated)
- Lead sponsor
- European Institute of OncologyUniversity, hospital or other
- Study start
- 16 May 2022 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 16 May 2026 (estimated)
- First posted
- 8 Jun 2022 (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 is a cross-sectional and retrospective study of a cohort of patients with invasive lobular breast cancer (LBC) or in situ lobular neoplasia (LIN3).
The main endpoint is the relative frequency of patients with a germline mutation using a recent panel including 113 genes from the "Illumina" protocol.
In case of identification of a novel pathogenetic germline mutations, a personalized follow-up will be offered to each patient (in case of genes at moderate-, low-penetrance), or prophylactic mastectomy (in case of genes at high-penetrance).
Breast screening in moderate-, low-penetrance mutated patients should be performed periodically using digital mammography, ultrasound and MRI, and will be routinely observed.
Patients will be scheduled for follow-up at six-month intervals for 5 years at our outpatient clinic, and yearly thereafter
Detailed description
Pathogenic or likely pathogenic variants (commonly referred to as mutations) in high-penetrance breast cancer (BC) susceptibility genes increase the risk of BC more than fourfold. Germline mutations in BRCA1 or BRCA2 (BRCA1/2) are found in 3% to 4% of all women with BC, including 10% to 20% of those with triple-negative breast cancer (TNBC) and 10% to 15% of Jewish women with BC.
Recent international guidelines consider only a small group of gene as high-penetrance risk: BRCA1/2, CDH1, PTEN, and PALB2 [2], the remaining are classified as moderate-, low-penetrance risks.
There are no specific associations between these germline mutations and BC histotypes. In accord with recent genetic results reported in literature, lobular histotype seems associated with a specific germline pathway.
We hypothesize that other genes are associated with a susceptibility for lobular breast carcinoma (LBC) predisposition and that novel genetic factors should be described, especially in subjects with early onset of LBC.
In this context we selected a recent panel including 113 genes from the "Illumina" protocol.
The screening analysis will be performed by Next Generation Sequencing (NGS) technology using the TruSight Hereditary Cancer panel (Illumina) to analyze the entire coding regions of 113 genes selected genes and 125 SNPs, starting from 50 ng of gDNA extracted with MagCore HF16 Plus (Diatech Labline).
The proposed project is scheduled in three major tasks:
- Data collection, including family history assessment and pedigree analysis for eligible subjects deserving genetic screening; 2) Genomic characterization of LBC in subjects with germline mutation; 3) Evaluation of disease-free survival and overall survival in subjects with germline mutation and establishment of a specific clinical follow-up for these patients.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 99 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for BC, with blood sample available in European Institute of Oncology biobank
Key inclusion criteria (4 listed)
- All LBC observed retrospectively at the European Institute of Oncology, with a proved diagnosis of LBC (biopsy or operated)
- Patients with blood available in biobank Exclusion criteria
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Illumina panelDetermination of germline mutations using a recent panel including 113 genes from the "Illumina" protocol | Diagnostic test | – |
Primary outcome
Relative frequency of patients with a germline mutation
Time frame: 1 month
Frequency of germline mutation status in patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for breast cancer
4 secondary outcomes
Correlation of clinic-pathological data between genes at high-penetrance versus other genes
Time frame: 1 month
Prevalence of germline mutation status by clinical strata
Time frame: 1 month
Association with disease free survival and overall survival
Time frame: 5 years
Association of mutation status with molecular subtypes
Time frame: 3 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Dec 2025.
- 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.
Giovanni Corso, PhD, MD principal investigator
European Institute of Oncology
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lobular Breast Carcinoma and Lobular in Situ Breast Carcinoma, run by European Institute of Oncology at 1 site in Italy.
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 0 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: under way, not looking for participants, as of the sponsor's last update on 4 Dec 2025. 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 Italy. 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?
This study is still under way. Results are not available in the source record yet.
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?
Relative frequency of patients with a germline mutation (time frame: 1 month). 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 4 Dec 2025.