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

Status Recruiting

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.

Clinical Trial 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. ;

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

• NCT number: NCT04009148
• Study type: Observational
• Source: NYU Langone Health
• Contact: Ashley Brown
• Phone: 646 501 7629
• Email: Factsforfam@nyulangone.org
• Status: Recruiting
• Start date: March 1, 2019
• Completion date: October 30, 2026