Genetic & Pathological Studies of BRCA1/BRCA2: Associated Tumors & Blood Samples
Stanford University
Summary
The purpose of this study is to try to understand the biology of development of breast, ovarian, fallopian tube, peritoneal or endometrial cancer from persons at high genetic risk for these diseases. The influence of environmental factors on cancer development in individuals and families will be studied. The efficacy of treatments for these diseases will be evaluated.
Description
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 de…
Eligibility
- Age range
- 18+ years
- Sex
- Female
- Healthy volunteers
- No
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.
Location
- Stanford University School of MedicineStanford, California