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Clinical Significance of Germline BRCA Mutations

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ClinicalTrials.gov Identifier: NCT00579488
Recruitment Status : Recruiting
First Posted : December 24, 2007
Last Update Posted : November 30, 2020
Sponsor:
Collaborator:
Cold Spring Harbor Laboratory
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center

Tracking Information
First Submitted Date December 19, 2007
First Posted Date December 24, 2007
Last Update Posted Date November 30, 2020
Study Start Date July 1996
Estimated Primary Completion Date July 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 25, 2016)
To obtain DNA samples [ Time Frame: 2 years ]
for the purpose of estimating relative risk of BRCA1 ,BRCA2 and other gene mutations for breast cancer incidence in families with breast or ovarian cancer.
Original Primary Outcome Measures
 (submitted: December 21, 2007)
To obtain DNA samples for the purpose of estimating relative risk of BRCA1 and BRCA2 mutations for breast cancer incidence in families with breast or ovarian cancer. [ Time Frame: 2 years ]
Change History
Current Secondary Outcome Measures
 (submitted: December 20, 2013)
  • To obtain clinical and follow-up information on individuals being tested for BRCA mutations, in order to assess penetrance & phenotypic correlations of specific mutations, & to describe the outcome of medical or surgical interventions in heterozygotes. [ Time Frame: 2 years ]
  • To establish a confidential registry/repository containing data on specific mutations and genomic variants and clinical feature as well as DNA for future gene discovery. [ Time Frame: 2 years ]
Original Secondary Outcome Measures
 (submitted: December 21, 2007)
To obtain clinical and follow-up information on individuals being tested for BRCA mutations, in order to assess penetrance & phenotypic correlations of specific mutations, & to describe the outcome of medical or surgical interventions in heterozygotes. [ Time Frame: 2 years ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Significance of Germline BRCA Mutations
Official Title Clinical Significance of Germline BRCA Mutations
Brief Summary

The goal of this study is to help us learn more about the roles of genes in cancers that run in families. Sometimes, we are born with genes that are changed or altered. Gene changes are called mutations. Mutations may be passed down from parent to child. Some mutations cause a high risk for cancer. There are two major genes for breast and ovarian cancer. These genes are called BRCA --for breast cancer. If you have a mutation in these genes special actions may be needed. For a person with a known mutation, we will suggest ways to screen for cancer or prevent it. Not everything is known about cancer genes and mutations. The cancer screening we suggest may not always be effective. The aim of this study is to explore these questions. If you agree we will stay in touch with you to follow your medical history. We will also ask you about your family.

This will allow us to measure the cancer risks of known mutations. The study will also look for other cancer genes we do not know about. Whether or not you take part in this study, you may have gene testing. If you take part in this study and wish to know, we will tell your BRCA gene test results.

Beginning in 2019, a subset of participants will be given a follow-up questionnaire regarding their health and well-being.

The investigators may perform genetic testing on the blood or saliva sample in one of two ways: analysis for mutations in the BRCA1 and BRCA2 genes alone or as part of a panel of genes associated with breast cancer predisposition. New technologies are being employed for identification of patients with a susceptibility for developing breast cancer and thus analysis of multiple genes at one time may be offered to you. If this multi-gene testing applies to the patient, a question and answer sheet about this testing will be provided to them by their genetic counselor.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood, Saliva, Buccal cell, Urine or Stool Tissue analysis and correlation of germline findings with somatic alterations within the tumor will be performed on a subset of individuals who have tumor tissue stored under protocol #06-107. Patients will be asked to fill out a baseline questionnaire on other medical, hormonal, and environmental risk factors.
Sampling Method Non-Probability Sample
Study Population Primary Care Clinic
Condition
  • Breast Cancer
  • Ovarian Cancer
Intervention Not Provided
Study Groups/Cohorts Not Provided
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: December 7, 2016)
20000
Original Estimated Enrollment
 (submitted: December 21, 2007)
5000
Estimated Study Completion Date July 2022
Estimated Primary Completion Date July 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Families referred for genetic counseling consultation at Memorial Hospital
  • Individuals self-referred or physician referred for genetic counseling due to a concern about increased risk for breast cancer, regardless of family history or ethnic origin.
  • Individuals enrolled in MSK protocol 97-029 "Germline BRCA1 and BRCA2 mutations in Jewish Women Affected by Breast Cancer" who wish to have full sequencing or who wish to have commercial testing in addition to testing done as part of that study.
  • Individuals who present for genetic counseling consultation at Memorial Hospital after undergoing genetic testing at an outside institution.
  • Member of a family with breast cancer who wishes to provide a DNA sample for research purposes
  • Individuals enrolled on protocol 12-245 with germline variants in genes associated with risk for breast or ovarian cancer, or absent such variants in the presence of a family history or other phenotypic features of interest including but not limited to: triple negative breast cancer, early onset of disease, and/or synchronous or metachronous breast and ovarian cancer.

Exclusion Criteria:

-Patients will be excluded from this study if: he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent; he/she cannot read, write or communicate in English; he/she is less than 18 years of age.

Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Kenneth Offit, MD, MPH 646-888-4050
Contact: Mark Robson, MD 646-888-5434
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00579488
Other Study ID Numbers 96-051
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Memorial Sloan Kettering Cancer Center
Study Sponsor Memorial Sloan Kettering Cancer Center
Collaborators Cold Spring Harbor Laboratory
Investigators
Principal Investigator: Kenneth Offit, MD Memorial Sloan Kettering Cancer Center
PRS Account Memorial Sloan Kettering Cancer Center
Verification Date November 2020