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Clinical Significance of Germline BRCA Mutations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00579488
Recruitment Status : Recruiting
First Posted : December 24, 2007
Last Update Posted : October 7, 2021
Cold Spring Harbor Laboratory
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center

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.

Condition or disease
Breast Cancer Ovarian Cancer

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Study Type : Observational
Estimated Enrollment : 20000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Clinical Significance of Germline BRCA Mutations
Study Start Date : July 1996
Estimated Primary Completion Date : July 2023
Estimated Study Completion Date : July 2023

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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 ]
  2. 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 ]

Biospecimen Retention:   Samples With DNA
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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary Care Clinic

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"
  • 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.

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 identifier (NCT number): NCT00579488

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Contact: Kenneth Offit, MD, MPH 646-888-4050
Contact: Mark Robson, MD 646-888-5434

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United States, New Jersey
Memoral Sloan Kettering Basking Ridge Recruiting
Basking Ridge, New Jersey, United States
Contact: Kenneth Offit, MD, MPH    646-888-4050      
Memoral Sloan Kettering Monmouth Recruiting
Middletown, New Jersey, United States, 07748
Contact: Kenneth Offit, MD    646-888-4067      
Memorial Sloan Kettering Bergen Recruiting
Montvale, New Jersey, United States, 07645
Contact: Kenneth Offit, MD, MPH    646-888-4050      
United States, New York
Memorial Sloan Kettering Commack Recruiting
Commack, New York, United States, 11725
Contact: Kenneth Offit, MD, MPH    646-888-4050      
Memorial Sloan Kettering Westchester Recruiting
Harrison, New York, United States, 10604
Contact: Kenneth Offit, MD, MPH    646-888-4050      
Memorial Sloan Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Contact: Kenneth Offit, MD    646-888-4050      
Memorial Sloan Kettering Nassau Recruiting
Uniondale, New York, United States, 11553
Contact: Kenneth Offit, MD,MPH    646-888-4050      
Sponsors and Collaborators
Memorial Sloan Kettering Cancer Center
Cold Spring Harbor Laboratory
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Principal Investigator: Kenneth Offit, MD Memorial Sloan Kettering Cancer Center
Additional Information:
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Responsible Party: Memorial Sloan Kettering Cancer Center Identifier: NCT00579488    
Other Study ID Numbers: 96-051
First Posted: December 24, 2007    Key Record Dates
Last Update Posted: October 7, 2021
Last Verified: October 2021