To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian CancerNCT02317120
BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
An observational study of To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer, run by Alexandru Eniu at 1 site in Romania.
Trial summary
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age at disease onset. Read more about this study
- Who is it for?
- Ages 18 to 75 years, women only
- Conditions the study is for
- To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer
- What is being tested?
- NGS BRCA 1 and BRCA 2 full sequencing and Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2
- How many people
- 250 participants
- Where
- 1 siteRomania
- Study dates
- Feb 2015to Dec 2016
- 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 75 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Womens who have been diagnosed with breast/ovarian cancer , carriers of a high risk of gBRCA mutations based on prespecified inclusion criterias
Who may be able to join
- Categories of patients to be recruited for complete sequencing of all BRCA1 and BRCA2 exons are subjects who have been diagnosed with breast or ovarion cancer and who are:
- 1)40 years of age or younger 2)Triple negative breast cancer diagnosed before 50 years of age 3)Male with breast cancer 4)Bilateral breast cancer, first tumor diagnosed before 50 years of age 5)2) + 50 years of age or younger with at least one (first degree) relative diagnosed with breast cancer at 50 years of age or younger or a first degree relative with ovarian cancer 6)of any age with 2 or more relatives with breast cancer 7)of any age with 2 or more relatives with ovarian cancer 8)of any age with a personal history of ovarian cancer, tuba or peritoneal carcinoma 9)Two patients in same branch of the family, Prostate ca < 60 yr and 1st degree relative with BC < 50 yr 10)Two or more 1st and 2nd degree relatives of a patient with breast cancer, at least one of them <50 yr 11)of any age with a family history of male breast cancer or are at increased risk of having a BRCA mutation based on BRCAPRO or Tyrer-Cuzick models
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
About this study
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age at disease onset.
Secondary objective Considering the fact that BRCA testing is not a routine procedure in Romania and mutation prevalence varies in different populations, we intend to look for the founder mutation in our population, running full BRCA genes sequencing to a representative population sample. This would allow a more targeted approach to real-life practice and would ensure personalized solutions for every patient in need.
- Being tested
- NGS BRCA 1 and BRCA 2 full sequencing, Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2
- Medical subject headings
- Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGS BRCA 1 and BRCA 2 full sequencingGenetic
Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2Genetic
Firstly many pairs of probes, containing: a universal primer sequence, a specific hybridisation target sequence and a stuffer DNA region to vary the size of the resulting product, are hybridised adjacent to each other on the target DNA strand .The two adjacent probe sequences are ligated to form a continuous section of DNA.The ligated probes are then amplified using PCR. The amplified fragments are analysed by capillary electrophoresis to detect the different fragment lengths. These data can be analysed to show the relative copy number of each fragment that is present in the sample.
What is being measured
The primary outcome is the main question the study is designed to answer.
BRCA1 and BRCA2 variants prevalence and penetrance at Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2014 (estimated)
- Study startFeb 2015
- Primary completionDec 2016
- Study completionDec 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian 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
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 250 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexandru Eniu
- Sponsor type
- University, hospital or other
- Collaborators
- Iuliu Hatieganu University of Medicine and Pharmacy
- Responsible party
- Sponsor-investigator, Alexandru Eniu, Prof. Dr. I. Chiricuta Institute of Oncology
- Investigators
- Alexandru Eniu, MD,PhD, Study director, ESMO
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02317120
- Sponsor's protocol ID
- D0810C00088
- Status last verified
- Jan 2017
- First submitted
- 11 Dec 2014
- Last updated
- 1 Feb 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Feb 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
- ClinicalTrials.gov ID
- NCT02317120
- Acronym / sponsor ID
- D0810C00088
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 250 participants (actual)
- Lead sponsor
- Alexandru EniuUniversity, hospital or other
- Collaborators
- Iuliu Hatieganu University of Medicine and Pharmacy
- Study start
- Feb 2015
- Primary completion
- Dec 2016 (actual)
- Study completion
- Dec 2016 (actual)
- First posted
- 15 Dec 2014 (estimated)
- 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.
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age at disease onset.
Secondary objective Considering the fact that BRCA testing is not a routine procedure in Romania and mutation prevalence varies in different populations, we intend to look for the founder mutation in our population, running full BRCA genes sequencing to a representative population sample. This would allow a more targeted approach to real-life practice and would ensure personalized solutions for every patient in need.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 75 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Womens who have been diagnosed with breast/ovarian cancer , carriers of a high risk of gBRCA mutations based on prespecified inclusion criterias
Key inclusion criteria (2 listed)
- Categories of patients to be recruited for complete sequencing of all BRCA1 and BRCA2 exons are subjects who have been diagnosed with breast or ovarion cancer and who are:
- 1)40 years of age or younger 2)Triple negative breast cancer diagnosed before 50 years of age 3)Male with breast cancer 4)Bilateral breast cancer, first tumor diagnosed before 50 years of age 5)2) + 50 years of age or younger with at least one (first degree) relative diagnosed with breast cancer at 50 years of age or younger or a first degree relative with ovarian cancer 6)of any age with 2 or more relatives with breast cancer 7)of any age with 2 or more relatives with ovarian cancer 8)of any age with a personal history of ovarian cancer, tuba or peritoneal carcinoma 9)Two patients in same branch of the family, Prostate ca < 60 yr and 1st degree relative with BC < 50 yr 10)Two or more 1st and 2nd degree relatives of a patient with breast cancer, at least one of them <50 yr 11)of any age with a family history of male breast cancer or are at increased risk of having a BRCA mutation based on BRCAPRO or Tyrer-Cuzick models
Key exclusion criteria (1 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 |
|---|---|---|
| NGS BRCA 1 and BRCA 2 full sequencing | Genetic | – |
| Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2Firstly many pairs of probes, containing: a universal primer sequence, a specific hybridisation target sequence and a stuffer DNA region to vary the size of the resulting product, are hybridised adjacent to each other on the target DNA strand .The two adjacent probe sequences are ligated to form a continuous section of DNA.The ligated probes are then amplified using PCR. The amplified fragments are analysed by capillary electrophoresis to detect the different fragment lengths. These data can be analysed to show the relative copy number of each fragment that is present in the sample. | Genetic | – |
Primary outcome
BRCA1 and BRCA2 variants prevalence and penetrance at Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations
Time frame: 12 months
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 1 Feb 2017.
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.
Alexandru Eniu, MD,PhD study director
ESMO
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 To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer, run by Alexandru Eniu at 1 site in Romania.
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 2 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: finished, as of the sponsor's last update on 1 Feb 2017. 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 Romania. 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?
BRCA1 and BRCA2 variants prevalence and penetrance at Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations (time frame: 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 1 Feb 2017.