Clinical Significance of Germline BRCA Mutations

Status:	Recruiting
Conditions:	Breast Cancer, Ovarian Cancer, Cancer
Therapuetic Areas:	Oncology
Healthy:	No
Age Range:	18 - Any
Updated:	10/21/2018
Start Date:	July 1996
End Date:	July 2019
Contact:	Kenneth Offit, MD, MPH
Phone:	646-888-4067

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.

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

- 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.

We found this trial at

sites

Memorial Sloan Kettering Cancer Center

1275 York Ave
New York, New York 10021

(212) 639-2000