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

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ClinicalTrials.gov Identifier: NCT04009148
Recruitment Status : Recruiting
First Posted : July 4, 2019
Last Update Posted : July 4, 2019
Sponsor:
Information provided by (Responsible Party):
NYU Langone Health

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.

Condition or disease Intervention/treatment
BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation Other: CASCADE genetic screening

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.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
Actual Study Start Date : March 1, 2019
Estimated Primary Completion Date : March 2020
Estimated Study Completion Date : March 2021


Group/Cohort Intervention/treatment
Successful Cascade Testing
Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed.
Other: CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Relative Declines Genetic Testing
Genetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed.
Other: CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives




Primary Outcome Measures :
  1. Establishing the CASCADE Cohort [ Time Frame: 1 Year ]
    Number of relatives with successful cascade testing


Biospecimen Retention:   None Retained
Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 99 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
First or second degree faamily member with any of the following mutations: BRCA mutation, SH6, PMS2, EPCAM, RAD51C, RAD51D mutations
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04009148


Contacts
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Contact: Katherine Baumann 212 731 6455 Katherine.Baumann@nyulangone.org

Locations
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United States, New York
NYU Langone Health Recruiting
New York, New York, United States, 10016
Contact: Katherine Baumann    212-731-6455    Katherine.Baumann@nyulangone.org   
Principal Investigator: Bhavana Pothuri, MD         
Sponsors and Collaborators
NYU Langone Health
Investigators
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Principal Investigator: Bhavana Pothuri, MD New York Langone Medical Center

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Responsible Party: NYU Langone Health
ClinicalTrials.gov Identifier: NCT04009148     History of Changes
Other Study ID Numbers: 17-01135
First Posted: July 4, 2019    Key Record Dates
Last Update Posted: July 4, 2019
Last Verified: July 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Ovarian Neoplasms
Carcinoma, Ovarian Epithelial
Hereditary Breast and Ovarian Cancer Syndrome
Endocrine Gland Neoplasms
Neoplasms by Site
Neoplasms
Ovarian Diseases
Genital Neoplasms, Female
Urogenital Neoplasms
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Breast Neoplasms
Neoplastic Syndromes, Hereditary
Adnexal Diseases
Genital Diseases, Female
Endocrine System Diseases
Gonadal Disorders
Carcinoma
Genetic Diseases, Inborn
Breast Diseases
Skin Diseases