Clinical Significance of Germline BRCA Mutations
The goal of this study is to help us learn more about the roles of genes and 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.
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.
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Clinical Significance of Germline BRCA Mutations|
- 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 ] [ Designated as safety issue: No ]
- 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 ] [ Designated as safety issue: No ]
- 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 ] [ Designated as safety issue: No ]
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.
|Study Start Date:||July 1996|
|Estimated Study Completion Date:||July 2015|
|Estimated Primary Completion Date:||July 2015 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT00579488
|Contact: Kenneth Offit, MD||646-888-4067|
|United States, New York|
|Memorial Sloan Kettering Cancer Center||Recruiting|
|New York, New York, United States, 10065|
|Principal Investigator:||Kenneth Offit, MD||Memorial Sloan-Kettering Cancer Center|