NCT04009148

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

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 118 (actual)
• Sponsor: NYU Langone Health · Academic / Other
• Sex: All
• Age: 18 Years – 99 Years
• Healthy volunteers: Accepted

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.

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
• EPCAM
• RAD51C Gene Mutation

Interventions

Type	Name	Description
OTHER	CASCADE genetic screening	Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Timeline

• Start date: 2019-03-01
• Primary completion: 2025-06-11
• Completion: 2027-04-23
• First posted: 2019-07-05
• Last updated: 2025-06-12

Locations

1 site across 1 country: United States