BRCA-Mutated Ovarian CarcinomaNCT04009148
Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
An observational study of BRCA-Mutated Ovarian Carcinoma and BRIP1 Gene Mutation, run by NYU Langone Health at 1 site in United States.
Trial summary
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Read more about this study
- Who is it for?
- Ages 18 to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P
- What is being tested?
- CASCADE genetic screening
- How many people
- 118 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2019to 23 Apr 2027
- 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
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations
Who may be able to join
- All subjects must have a diagnosis of epithelial ovarian cancer, Fallopian tube caner or primary peritoneal cancer with a known pathogenic genetic mutation.
- All subjects must agree to participate.
- All subjects must have first or second degree relatives who have not been diagnosed with the same genetic mutation.
- A previous diagnosis of cancer in the subject's first or second degree relative is allowed.
Who cannot join
- Subjects whose first and/or second degree relatives have already been tested with the subject's known mutations, and no other viable family members are available for testing.
Trial locations and contacts
1 site in 1 country.
About this study
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.
Read the detailed description
The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. In addition to BRCA1 and BRCA2, the NCCN suggests consideration of risk-reducing surgery for mutations in BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, investigators will include these subjects as well in the study.
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation
- Being tested
- CASCADE genetic screening
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CASCADE genetic screeningOther
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
| Study group | Role | What they receive |
|---|---|---|
| Successful Cascade Testing | Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed. Receives: Other: CASCADE genetic screening | |
| Relative Declines Genetic Testing | Genetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed. Receives: Other: CASCADE genetic screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishing the CASCADE Cohort
Number of relatives with successful cascade testing
Measured: 1 Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2019
- Study start1 Mar 2019
- Primary completion11 Jun 2025
- Study completion23 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA-Mutated Ovarian CarcinomaStudies of the same condition, open and under way.
- More trials run by NYU Langone HealthThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 118 participants (actual)
Sponsor and investigators
- Lead sponsor
- NYU Langone Health
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bhavana Pothuri, MD, Principal investigator, New York Langone Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04009148
- Sponsor's protocol ID
- 17-01135
- Status last verified
- May 2026
- First submitted
- 2 Jul 2019
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
- ClinicalTrials.gov ID
- NCT04009148
- Acronym / sponsor ID
- 17-01135
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 118 participants (actual)
- Lead sponsor
- NYU Langone HealthUniversity, hospital or other
- Study start
- 1 Mar 2019 (actual)
- Primary completion
- 11 Jun 2025 (actual)
- Study completion
- 23 Apr 2027 (estimated)
- First posted
- 5 Jul 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.
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.
Detailed description
The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. In addition to BRCA1 and BRCA2, the NCCN suggests consideration of risk-reducing surgery for mutations in BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, investigators will include these subjects as well in the study.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Successful Cascade Testing | – | Other: CASCADE genetic screeningGenetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed. |
| Relative Declines Genetic Testing | – | Other: CASCADE genetic screeningGenetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed. |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations
Key inclusion criteria (4 listed)
- All subjects must have a diagnosis of epithelial ovarian cancer, Fallopian tube caner or primary peritoneal cancer with a known pathogenic genetic mutation.
- All subjects must agree to participate.
- All subjects must have first or second degree relatives who have not been diagnosed with the same genetic mutation.
- A previous diagnosis of cancer in the subject's first or second degree relative is allowed.
Key exclusion criteria (1 listed)
- Subjects whose first and/or second degree relatives have already been tested with the subject's known mutations, and no other viable family members are available for testing.
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 |
|---|---|---|
| CASCADE genetic screeningFamily-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives | Other | Relative Declines Genetic Testing, Successful Cascade Testing |
Primary outcome
Establishing the CASCADE Cohort
Time frame: 1 Year
Number of relatives with successful cascade testing
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 14 May 2026.
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Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
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Prophylactic Salpingectomy With Delayed Oophorectomy
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Niraparib and TSR-042 for the Treatment of BRCA-Mutated Unresectable or Metastatic Breast, Pancreas, Ovary, Fallopian Tube, or Primary Peritoneal Cancer
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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.
Bhavana Pothuri, MD principal investigator
New York Langone Medical Center
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 BRCA-Mutated Ovarian Carcinoma and BRIP1 Gene Mutation, run by NYU Langone Health at 1 site in United States.
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 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: under way, not looking for participants, as of the sponsor's last update on 14 May 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 United States. 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?
Establishing the CASCADE Cohort (time frame: 1 Year). 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 14 May 2026.