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

Sponsor

NYU Langone Health (Other)

Overall Status

Recruiting

CT.gov ID

NCT04009148

Collaborator

(none)

300

Enrollment

Location

Anticipated Duration (Months)

4.9

Patients Per Site Per Month

Study Details

Study Description

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	Phase
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.

Study Design

Study Type:

Observational

Anticipated 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 :

Mar 1, 2019

Anticipated Primary Completion Date :

Mar 31, 2023

Anticipated Study Completion Date :

Mar 31, 2024

Arms and Interventions

Arm	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

Arm

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

Outcome Measures

Primary Outcome Measures

Establishing the CASCADE Cohort [1 Year]
Number of relatives with successful cascade testing

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 99 Years

Sexes Eligible for Study:

All

Accepts 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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	NYU Langone Health	New York	New York	United States	10016

Sponsors and Collaborators

NYU Langone Health

Investigators

Principal Investigator: Bhavana Pothuri, MD, New York Langone Medical Center

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

NYU Langone Health

ClinicalTrials.gov Identifier:

NCT04009148

Other Study ID Numbers:

17-01135

First Posted:

Jul 5, 2019

Last Update Posted:

Apr 20, 2022

Last Verified:

Apr 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Hereditary Breast and Ovarian Cancer Syndrome

Study Results

No Results Posted as of Apr 20, 2022