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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Successful Cascade Testing | Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed. |
| |
| Relative Declines Genetic Testing | Genetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| CASCADE genetic screening | Other | Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives |
|
| Measure | Description | Time Frame |
|---|---|---|
| Establishing the CASCADE Cohort | Number of relatives with successful cascade testing | 1 Year |
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Inclusion Criteria:
Exclusion Criteria:
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First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations
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| Name | Affiliation | Role |
|---|---|---|
| Bhavana Pothuri, MD | New York Langone Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| NYU Langone Health | New York | New York | 10016 | United States |
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Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)