Bethesda, Maryland 20892

  • Ovarian Cancer


RATIONALE: Studying individuals and families at high risk for breast or ovarian cancer may help in identifying the genes involved in the development of breast and ovarian cancer and help to identify other persons at risk for cancer. PURPOSE: Study to identify genetic, behavioral, and environmental factors related to cancer risk in individuals and families at high risk for breast or ovarian cancer.

Study summary:

OBJECTIVES: - Evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to familial breast/ovarian cancer. - Develop a resource of epidemiological, clinical, behavioral, and genetic information on individuals and families predisposed to familial breast/ovarian cancer. - Track and validate cancer occurrence and other clinical outcomes in members of these high-risk kindreds. - Evaluate potential precursor states of neoplastic disease in families at risk of breast and ovarian cancer. - Quantify the risk of specific tumors in family members of this high-risk population. - Map, clone, and determine the function of novel tumor susceptibility genes in this high-risk population. - Identify genetic determinants and genetic and environmental modifiers of cancer risk in individuals and families predisposed to breast/ovarian cancer. - Evaluate gene-gene and gene-environment interactions in the pathogenesis of familial breast/ovarian cancer. OUTLINE: Individuals undergo a clinical evaluation that may include a medical history and a physical examination, including possible pelvic or prostate exam. Women may also undergo mammography, MRI of the breast, CA 125 level, transvaginal color doppler, and breast duct lavage. Men may also have a serum PSA obtained if they are over 50 years of age and a breast duct lavage and breast imaging if there is a personal history or risk of familial breast cancer. Some individuals may undergo excisional or needle biopsies or other diagnostic procedures (e.g., galactography or ductal endoscopy) to evaluate a suspected diagnosis of breast, ovarian, or other cancers. Biologic specimens that may be collected include blood for germline DNA extraction, buccal cells, tumor tissue, and/or skin fibroblasts. One family member completes a family history questionnaire. Family members may complete psychological assessments. Some individuals may undergo genetic testing and counseling. Families are contacted approximately every year for follow-up information. A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute. PROJECTED ACCRUAL: A total of 500 participants will be accrued for this study.


DISEASE CHARACTERISTICS: - Any of the following: - Families with neoplasias of an unusual type, pattern, or number, including breast cancer, or which is consistent with an identified or suspected familial cancer syndrome, including breast and/or ovarian cancer - Families with a history of any of the following types of syndromes: - Familial breast/ovarian - Li-Fraumeni - Peutz-Jegher - Cowden - Families with multiple cases of breast cancer among first- and second-degree relatives - Families with a history of other cancers that do not fit into a well-characterized syndrome (e.g., multiple occurrences of breast and colorectal cancers) - Families of an individual with a known mutation in the BRCA1 or BRCA2 gene - Individuals with a personal history of neoplasia(s) or benign conditions of an unusual type - Individuals with unusual demographic features, including: - Young age at onset of disease - Multiple primary sites - Rare tumor type of pathologic characteristic - At least 2 living affected family members are required for known or suspected familial syndromes for which no gene has been identified - Diagnoses must be verifiable PATIENT CHARACTERISTICS: Age - 18 and over Performance status - Not specified Life expectancy - Not specified Hematopoietic - Not specified Hepatic - Not specified Renal - Not specified PRIOR CONCURRENT THERAPY: Biologic therapy - Not specified Chemotherapy - Not specified Endocrine therapy - Not specified Radiotherapy - Not specified Surgery - Not specified



Primary Contact:

Study Chair
Mark H. Greene, MD
Clinical Genetics Branch

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

Patient Recruitment
Phone: 800-518-8474

Site Status: Recruiting

Data Source:

Date Processed: December 07, 2022

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