BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, EPCAM, MLH1 Gene Mutation, MSH2 A636P, MSH6 Gene Mutation, PMS2 Gene Mutation, RAD51C Gene Mutation
Conditions
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.
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.
Interventions
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
Sponsors
NYU Langone Health
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Establishing the CASCADE Cohort | 1 Year | Number of relatives with successful cascade testing |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORBhavana Pothuri, MD
New York Langone Medical Center
Outcome results
None listed