Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples

1. To establish a demographic database to evaluate the efficacy of medical interventions in
patients and relatives who carry BRCA1 and 2 mutations and to compare these outcomes to
patients who do not carry a BRCA1 or 2 mutation.

2. To obtain blood samples from patients who undergo genetic testing to a) evaluate the
incidence of genetic modifier polymorphisms involved in the development of cancer in
BRCA1 and 2 mutation carriers and to compare this incidence to non-BRCA 1 and 2
carriers. b) to understand the interaction of genetic modifiers and BRCA1 and 2 in the
development of cancer. c) to determine the effect of environmental influences on the
incidence of polymorphisms in genetic modifiers and on the penetrance of BRCA1 and 2
mutations by linking information from our demographic database to blood samples and

3. To obtain tumor tissue from BRCA1 and 2 carriers to utilize for gene expression studies.

4. To establish a cohort of sporadic breast cancer patients, or women with no family
history of cancer in a first degree relative, to serve as a comparison group to women
with strong family history of breast cancer.

5. To establish a cohort of healthy volunteers without personal or family history of cancer
to serve as a comparison group to women with sporadic and familial breast cancer.

Inclusion Criteria:

I. Women who have a high risk of developing breast or ovarian cancer due to a known
germline mutation in the BRCA1/2, PTEN, CDH1, or TP53 cancer susceptibility genes, or due
to strong family history of either breast or ovarian cancer, in the absence of known cancer
susceptibility gene mutation.

II. Women who are approaching surgery for resection of a pelvic mass, which is considered
suspicious for neoplasia by radiologic or clinical criteria; such women may or may not also
meet criteria for inclusion in group I.