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.
|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 containing data on specific mutations and genomic variants and clinical feature. [ 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.
|Study Start Date:||July 1996|
|Estimated Study Completion Date:||July 2014|
|Estimated Primary Completion Date:||July 2014 (Final data collection date for primary outcome measure)|
The objectives of this study are to characterize the clinical significance of mutations of established breast and ovarian cancer susceptibility genes. This will include analysis of the penetrance and spectrum of mutations of BRCA1 and BRCA2 alterations. Sequencing analysis for BRCA1 mutations has been performed on a subset of 60 cases in this protocol as part of the "Beta testing" program of Myriad Genetics, Inc. Follow-up of BRCA1 and BRCA2 heterozygotes will allow estimates of penetrance as well as establish the efficacy of surgical interventions, including prophylactic mastectomy, and other preventive strategies, as well as the effect of hormonal, environmental, or treatment induced factors in mediating breast and ovarian cancer risk. With respect to treatment induced risks, it is possible that such therapies as radiation, may actually induce second somatic mutations in both BRCA and other genes.
|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|