Official Title
Clinical Significance of Germline BRCA Mutations
Brief Title
Clinical Significance of Germline BRCA Mutations
Protocol ID
NCT00579488
Lead Sponsor
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.
Enrollment Count
13,320 participants
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"
- 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.
Filters
Breast Cancer
Ovarian Cancer
ACTIVE_NOT_RECRUITING
ADULT
OLDER_ADULT