Clinical Significance of Germline BRCA Mutations

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by Memorial Sloan-Kettering Cancer Center
Sponsor:
Collaborator:
Cold Spring Harbor Laboratory
Information provided by (Responsible Party):
Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier:
NCT00579488
First received: December 19, 2007
Last updated: August 12, 2014
Last verified: August 2014
  Purpose

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.


Condition
Breast Cancer

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Clinical Significance of Germline BRCA Mutations

Resource links provided by NLM:


Further study details as provided by Memorial Sloan-Kettering Cancer Center:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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.


Estimated Enrollment: 5000
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)
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Primary Care Clinic

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

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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00579488

Contacts
Contact: Kenneth Offit, MD 646-888-4067

Locations
United States, New York
Memorial Sloan-Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Sponsors and Collaborators
Memorial Sloan-Kettering Cancer Center
Cold Spring Harbor Laboratory
Investigators
Principal Investigator: Kenneth Offit, MD Memorial Sloan-Kettering Cancer Center
  More Information

Additional Information:
No publications provided

Responsible Party: Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier: NCT00579488     History of Changes
Other Study ID Numbers: 96-051
Study First Received: December 19, 2007
Last Updated: August 12, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Breast Neoplasms
Neoplasms by Site
Neoplasms
Breast Diseases
Skin Diseases

ClinicalTrials.gov processed this record on September 18, 2014