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Active, Not Recruiting

NCT Number: NCT04009148

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

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

Age range

18 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

NYU Langone Health

New York, 10016, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

CASCADE genetic screening

Other

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

Primary outcomes

  1. Establishing the CASCADE Cohort

    Time frame: 1 Year

    Number of relatives with successful cascade testing

Sponsors and collaborators

Lead sponsor

NYU Langone Health

Other

Registry information

Important dates

Study start
2019
Primary completion
2025
Study completion
2027
First posted
Jul 5, 2019
Registry last updated
May 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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