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

ACTIVE NOT RECRUITING

NCT04009148

Sponsor: NYU Langone Health

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.

Key Details

Gender

All

Age Range

18 Years - 99 Years

Study Type

OBSERVATIONAL

Enrollment

118

Start Date

2019-03-01

Completion Date

2027-04-23

Last Updated

2025-06-12

Healthy Volunteers

Yes

Conditions

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

Interventions

OTHER

CASCADE genetic screening

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

Locations (1)

NYU Langone Health

New York, New York, United States

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