Study of Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization Of Individuals And Families At High Risk Of Breast/Ovarian Cancer
| City: |
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Bethesda |
| State: |
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Maryland |
| Zip Code: |
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20892 |
| Conditions: |
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Breast Cancer - Hereditary Breast/Ovarian Cancer (brca1, brca2) - Ovarian Cancer |
| Purpose: |
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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.
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| Study Summary: |
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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.
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| Criteria: |
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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
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| NCT ID: |
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NCT00045214 |
| Primary Contact: |
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Study Chair
Mark H. Greene, MD
Clinical Genetics Branch
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| Backup Contact: |
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N/A |
| Location Contact: |
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Bethesda, Maryland 20892
United States
Patient Recruitment
Phone: 800-518-8474
Site Status: Recruiting |
| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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June 19, 2013 |
| Modifications to this listing: |
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