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

  • End date
    Mar 31, 2024
  • participants needed
  • sponsor
    NYU Langone Health
Updated on 2 May 2022
Accepts healthy volunteers


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.

Condition BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation, EPCAM, RAD51C Gene Mutation
Treatment CASCADE genetic screening
Clinical Study IdentifierNCT04009148
SponsorNYU Langone Health
Last Modified on2 May 2022


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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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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