Breast Imaging Studies in Women at High Genetic Risk of Breast Cancer: Annual Follow-Up Study

This study will explore new screening methods for early detection of breast and ovarian cancer in women at high risk for these diseases, because they have an altered breast cancer 1 (BRCA1) or breast cancer 2 (BRCA2) gene. It will also try to determine if breast tissue characteristics in women with a BRCA1 or BRCA2 mutation differ from those in women with a normal gene. Premenopausal women between 25 and 45 years of age who have participated in National Cancer Institute studies for families or individuals at high genetic risk of cancer (78-C-0039 or 99-C-0081) and who have at least a 50 percent probability of carrying an altered BRCA1 or BRCA2 gene may be eligible for this study. At the first visit, participants will have from 4 to 24 tablespoons of blood drawn and will be interviewed about breast and ovarian cancer risk factors, family and personal history of cancer, history of pregnancies, use of oral contraceptives and other hormones and drugs, and previous surgery on the breasts and ovaries. In addition, they will undergo the following procedures: Routine breast and ovarian cancer screening for high-risk women, including a mammogram, breast and pelvic exam, instruction in breast self-examination, CA 125 blood test and transvaginal ultrasound of the ovaries. Magnetic Resonance Imaging (MRI) of the breast MRI uses a strong magnetic field to show structural and chemical changes in tissues. Breast Duct Lavage In this procedure samples of fluid and cells from the lining of the breast milk ducts are collected to look for cancerous or pre-cancerous cell changes. Positron Emission Tomography (PET) scan PET scanning will be done only in participants whose mammogram or MRI findings require additional evaluation. This diagnostic test is based on differences in how cells take up and use glucose (sugar), one of the body s main fuels. Annual follow-up visits will be scheduled for 3 years and will include routine high-risk screening as described above, blood draw, update of family history and risk factors, breast MRI, breast duct lavage and, if there are changes on the MRI or mammogram that need further evaluation, the PET will be repeated. ...