Triple Negative Breast CancerPERSONANCT03920488
Next-Generation Sequencing-based Germline and Somatic Genetic Testing in Triple-negative Breast Cancer
An observational study of Triple Negative Breast Cancer, run by European Institute of Oncology at 1 site in Italy.
Trial summary
For patients with triple negative breast cancer, implementation of genetic testing in decision making might impact both risk management for the patient and her family, but also, importantly, therapeutic management. Read more about this study
- Who is it for?
- Ages 18 to 60 years
- Conditions the study is for
- Triple Negative Breast Cancer
- How many people
- 264 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jun 2018to 31 Dec 2023
- Phase
- Observational
- 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 to 60 years
- All sexes
- No healthy volunteers
- Adult
Study population: Patients with triple-negative breast cancer, stage I-III, cadidates for surgery
Who may be able to join
- age between 18 and 60 years
- has signed informed consent
- histologically confirmed triple negative breast cancer (ER (Estrogen Receptors) < 1%, PgR (Progesterone Receptors) < 1%, HER2/neu negative (IHC 0, 1+ or 2+ FISH negative).
- Stage I-III
- Able to undergo surgery (primary or post-neoadjuvant)
- Availability of surgical/bioptic material within 6 months from enrolment
Who cannot join
- unable or unwilling to receive genetic counselling
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Istituto Europeo di Oncologia
Milan
Viviana E Galimberti, MD
About this study
Official title: Evaluating the Feasibility of Next-Generation Sequencing - Based Germline and Somatic Genetic Testing in Triple-negative Breast Cancer. The PERSONA-breast Trial
For patients with triple negative breast cancer, implementation of genetic testing in decision making might impact both risk management for the patient and her family, but also, importantly, therapeutic management.
Identifying genetically predisposed subjects dictates risk-reducing strategies that may imply bilateral salpingo-oophorectomy and mastectomy or long term medical approaches. In the advanced setting, genetic testing can influence decision for medical therapy (e.g. use of platinum derivatives, poly-ADP ribose polymerase inhibitors (PARP inhibitors) in breast cancer patients with breast cancer susceptibility gene (BRCA) mutation.
Read more
The selection of patients for testing has long relied on the presence of a strong family history of breast and ovarian cancer. It is now clear that this criterion will result in substantial numbers of those with a BRCA mutation being missed.
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with ovarian cancer. Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostic platforms can be routinely implemented in the diagnostic workflow. This is the scope of the present study.
Read the detailed description
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with triple negative breast cancers.
Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostc platforms can be routinely implemented in the diagnostic workflow.
Two platforms will be used during the course of the study. The Illumina TruSight Cancer Risk panel is a commercially validated targeted enrichment panel which targets 94 genes and 284 SNPs (Single Nucleotide Polymorphism) associated with a predisposition towards cancer.
The GermSom panel was developed at European Institute of Oncology (IEO) in collaboration with institutions within the Alleanza Contro il Cancro consortium and manufactured by Agilent Technologies. It includes 349 genes with an established function in the biology and/or pharmacological actionability of multiple solid tumors, including breast cancer. It includes all the genomic regions analysed in the Illumina Trusight panel, plus 32 additional regions associated with risk of multiple tumors.
Patients will receive detailed genetic characterization of their germline and their tumor. This will provide the best possible characterization of their risk of developing of a secondary malignancy and can be exploited to identify families at risk for hereditary cancer risk. Patients will also benefit from an increased likelihood of being treated with appropriate drugs and of receiving appropriate surgery.
- Conditions
- Triple Negative Breast Cancer
- Keywords
- genetic testing, breast cancer
- Medical subject headings
- Triple Negative Breast Neoplasms, Breast Neoplasms
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of mutations in breast cancer risk-associated genes
Evaluate the prevalence of clinically relevant mutations in breast cancer risk-associated genes
Measured: 3 months
Genetic test turnaround time
Evaluate feasibility of genetic testing for clinical decision making
Measured: 6 months
Percentage of informative specimens
Percentage of patients with positive germline testing for target genes
Measured: 3 months
Secondary outcomes (3)
Incidence of all other mutations
Incidence of all other mutations
Measured: 3 months
disease-free survival
collection of disease associated events during follow-up
Measured: 10 years
overall survival
collection of death events during follow-up
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2019
- Study start1 Jun 2018
- Primary completion31 Dec 2023 (estimated)
- Study completion31 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Triple Negative Breast CancerStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 264 participants (estimated)
Sponsor and investigators
- Lead sponsor
- European Institute of Oncology
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Viviana E Galimberti, MD, Principal investigator, IEO
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03920488
- Sponsor's protocol ID
- IEO 0761/
- Acronym
- PERSONA
- Status last verified
- Jun 2023
- First submitted
- 16 Apr 2019
- Last updated
- 28 Jun 2023
- 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 28 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluating the Feasibility of Next-Generation Sequencing - Based Germline and Somatic Genetic Testing in Triple-negative Breast Cancer. The PERSONA-breast Trial
- ClinicalTrials.gov ID
- NCT03920488
- Acronym / sponsor ID
- PERSONA / IEO 0761/
- Conditions
- Triple Negative Breast Cancer
- Keywords
- genetic testing, breast cancer
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 264 participants (estimated)
- Lead sponsor
- European Institute of OncologyUniversity, hospital or other
- Study start
- 1 Jun 2018 (actual)
- Primary completion
- 31 Dec 2023 (estimated)
- Study completion
- 31 Dec 2023 (estimated)
- First posted
- 19 Apr 2019 (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.
For patients with triple negative breast cancer, implementation of genetic testing in decision making might impact both risk management for the patient and her family, but also, importantly, therapeutic management.
Identifying genetically predisposed subjects dictates risk-reducing strategies that may imply bilateral salpingo-oophorectomy and mastectomy or long term medical approaches. In the advanced setting, genetic testing can influence decision for medical therapy (e.g. use of platinum derivatives, poly-ADP ribose polymerase inhibitors (PARP inhibitors) in breast cancer patients with breast cancer susceptibility gene (BRCA) mutation.
The selection of patients for testing has long relied on the presence of a strong family history of breast and ovarian cancer. It is now clear that this criterion will result in substantial numbers of those with a BRCA mutation being missed.
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with ovarian cancer. Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostic platforms can be routinely implemented in the diagnostic workflow. This is the scope of the present study.
Detailed description
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with triple negative breast cancers.
Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostc platforms can be routinely implemented in the diagnostic workflow.
Two platforms will be used during the course of the study. The Illumina TruSight Cancer Risk panel is a commercially validated targeted enrichment panel which targets 94 genes and 284 SNPs (Single Nucleotide Polymorphism) associated with a predisposition towards cancer.
The GermSom panel was developed at European Institute of Oncology (IEO) in collaboration with institutions within the Alleanza Contro il Cancro consortium and manufactured by Agilent Technologies. It includes 349 genes with an established function in the biology and/or pharmacological actionability of multiple solid tumors, including breast cancer. It includes all the genomic regions analysed in the Illumina Trusight panel, plus 32 additional regions associated with risk of multiple tumors.
Patients will receive detailed genetic characterization of their germline and their tumor. This will provide the best possible characterization of their risk of developing of a secondary malignancy and can be exploited to identify families at risk for hereditary cancer risk. Patients will also benefit from an increased likelihood of being treated with appropriate drugs and of receiving appropriate surgery.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Patients with triple-negative breast cancer, stage I-III, cadidates for surgery
Key inclusion criteria (6 listed)
- age between 18 and 60 years
- has signed informed consent
- histologically confirmed triple negative breast cancer (ER (Estrogen Receptors) < 1%, PgR (Progesterone Receptors) < 1%, HER2/neu negative (IHC 0, 1+ or 2+ FISH negative).
- Stage I-III
- Able to undergo surgery (primary or post-neoadjuvant)
Key exclusion criteria (1 listed)
- unable or unwilling to receive genetic counselling
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of mutations in breast cancer risk-associated genes
Time frame: 3 months
Evaluate the prevalence of clinically relevant mutations in breast cancer risk-associated genes
Genetic test turnaround time
Time frame: 6 months
Evaluate feasibility of genetic testing for clinical decision making
Percentage of informative specimens
Time frame: 3 months
Percentage of patients with positive germline testing for target genes
3 secondary outcomes
Incidence of all other mutations
Time frame: 3 months
disease-free survival
Time frame: 10 years
overall survival
Time frame: 10 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jun 2023.
- Individual participant dataSharing planned: No
Related trials for Triple Negative Breast Cancer
RecruitingPhase 2
Ph2 Study for Optimization of Adjunct Systemic Therapy in HER2+ Patients, MolecularPCR Trial
Anatomic Stage I Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8
Not yet recruitingPhase 2
Dexamethasone De-Escalation in Neoadjuvant Chemoimmunotherapy for Triple-Negative Breast Cancer
Triple Negative Breast Cancer, Triple Negative Breast Cancer (TNBC)
Active, not recruitingPhase 1
Safety and Tolerability of IPH4502 in Patients With Advanced Solid Tumors
Advanced or Metastatic Solid Tumors
Active, not recruitingPhase 1/2
Phase I/II Study of the Anti-Programmed Death Ligand-1 Durvalumab Antibody (MEDI4736) in Combination With Olaparib and/or Cediranib for Advanced Solid Tumors and Advanced or Recurrent Ovarian, Triple Negative Breast, Lung, Prostate and Colorectal Can...
Colorectal Neoplasms, Breast Neoplasms
RecruitingObservational study
Collection of CSF Samples From Participants With Metastatic Triple Negative Breast Cancer (TNBC) and HER2+ Breast Cancer With no Prior History Nor Active Radiographically Detectable Brain Metastases
Breast Cancer, Breast Carcinoma
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.
Viviana E Galimberti, MD principal investigator
IEO
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 Triple Negative Breast Cancer, 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 6 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 28 Jun 2023. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Viviana E Galimberti, MD (+390257489717, viviana.galimberti@ieo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of mutations in breast cancer risk-associated genes (time frame: 3 months). The study lists 3 primary outcomes in all. 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 28 Jun 2023.