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

NCT04009148 | Active Not Recruiting

• 1 other identifier: 17-01135
• Study Type: observational
• Target: 118
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

BRCA-Mutated Ovarian Carcinoma; BRIP1 Gene Mutation; MSH2 A636P; MLH1 Gene Mutation; MSH6 Gene Mutation; PMS2 Gene Mutation; EPCAM; RAD51C Gene Mutation

Outcome Measures

Primary Outcomes (1)

• Establishing the CASCADE Cohort

  Number of relatives with successful cascade testing

  1 Year

Study Arms (2)

Successful Cascade Testing

Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed.

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.

Other: CASCADE genetic screening

Interventions

CASCADE genetic screening OTHER

Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Relative Declines Genetic Testing; Successful Cascade Testing

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• NYU Langone Health: lead

Study Sites (1)

NYU Langone Health

New York, New York, 10016, United States

Location

Biospecimen

Retention: NONE RETAINED

Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)

Study Officials

• Bhavana Pothuri, MD

  New York Langone Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 2, 2019
• First Posted: July 5, 2019
• Study Start: March 1, 2019
• Primary Completion: June 11, 2025
• Study Completion (Estimated): April 23, 2027
• Last Updated: June 12, 2025

Record last verified: 2025-06

Locations

US (1)