Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

May 11, 2026 updated by: NYU Langone Health
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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

118

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10016
        • NYU Langone Health

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 99 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Successful Cascade Testing
Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed.
Other: CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
Relative Declines Genetic Testing
Genetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed.
Other: CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Establishing the CASCADE Cohort
Time Frame: 1 Year
Number of relatives with successful cascade testing
1 Year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

NYU Langone Health

Investigators

  • Principal Investigator: Bhavana Pothuri, MD, New York Langone Medical Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 1, 2019

Primary Completion (Actual)

June 11, 2025

Study Completion (Estimated)

April 23, 2027

Study Registration Dates

First Submitted

July 2, 2019

First Submitted That Met QC Criteria

July 2, 2019

First Posted (Actual)

July 5, 2019

Study Record Updates

Last Update Posted (Actual)

May 14, 2026

Last Update Submitted That Met QC Criteria

May 11, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 17-01135

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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