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

BRIP1 Gene Mutation Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04009148
• Other study ID #: 17-01135
• Status: Recruiting
• Start date: March 1, 2019
• Est. completion date: October 30, 2026

Study information

• Verified date: January 2024
• Source: NYU Langone Health
• Contact: Ashley Brown
• Phone: 646 501 7629
• Email: Factsforfam[@]nyulangone.org
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 120
• Est. completion date: October 30, 2026
• Est. primary completion date: March 31, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 99 Years

Eligibility

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.

Related Conditions & MeSH terms

• BRCA-Mutated Ovarian Carcinoma
• BRIP1 Gene Mutation
• EPCAM
• Hereditary Breast and Ovarian Cancer Syndrome
• MLH1 Gene Mutation
• MSH2 A636P
• MSH6 Gene Mutation
• PMS2 Gene Mutation
• RAD51C Gene Mutation

Intervention

Other:
• CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Locations

Country	Name	City	State
United States	NYU Langone Health	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
NYU Langone Health

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Establishing the CASCADE Cohort	Number of relatives with successful cascade testing	1 Year