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出境医 / 临床实验 / Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

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

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
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
Layout table for study information
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 2022
Estimated Study Completion Date : March 2023
Arms and Interventions
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
Outcome Measures
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)

Eligibility Criteria
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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.
Contacts and Locations

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
Tracking Information
First Submitted Date July 2, 2019
First Posted Date July 5, 2019
Last Update Posted Date May 3, 2021
Actual Study Start Date March 1, 2019
Estimated Primary Completion Date March 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 2, 2019) 		Establishing the CASCADE Cohort [ Time Frame: 1 Year ]
Number of relatives with successful cascade testing
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
Official Title Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
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.
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 Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   None Retained
Description:
Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)
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
Condition
  • BRCA-Mutated Ovarian Carcinoma
  • BRIP1 Gene Mutation
  • MSH2 A636P
  • MLH1 Gene Mutation
  • MSH6 Gene Mutation
  • PMS2 Gene Mutation
  • EPCAM
  • RAD51C Gene Mutation
Intervention Other: CASCADE genetic screening
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
Study Groups/Cohorts
  • Successful Cascade Testing
    Genetic counselor contacts relatives and offers participation in study. Relative accepts and genetic testing in performed.
    Intervention: Other: CASCADE genetic screening
  • Relative Declines Genetic Testing
    Genetic counselor contacts relatives and offers participation in study. Relative declines and genetic testing is not performed.
    Intervention: Other: CASCADE genetic screening
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 2, 2019) 		300
Original Estimated Enrollment Same as current
Estimated Study Completion Date March 2023
Estimated Primary Completion Date March 2022   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 99 Years   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Katherine Baumann 212 731 6455 Katherine.Baumann@nyulangone.org
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04009148
Other Study ID Numbers 17-01135
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party NYU Langone Health
Study Sponsor NYU Langone Health
Collaborators Not Provided
Investigators
Principal Investigator: Bhavana Pothuri, MD New York Langone Medical Center
PRS Account NYU Langone Health
Verification Date April 2021

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