The Metropolitan New York Registry of Breast Cancer Families will be a subset of the Cooperative Family Registry for Epidemiologic Studies of Breast Cancer (CFRBC). This proposal describes a collaborative effort of scientists affiliated with seven New York medical centers, voluntary organizations, and a major corporation who propose to establish a registry of families affected by breast and/or ovarian cancer by screening the family histories of a large diverse population using a computer readable Family History Data Form developed for this project. The screening tool will be used to identify individuals with family histories satisfying the criteria of the MSKCC breast cancer algorithm developed from published research. Factors included in the algorithm are: the relationships of affected family members, ages at diagnosis, laterality (unilateral vs bilateral disease), and any history of ovarian cancer. We estimate that more than 1,600 families of diverse ethnic backgrounds will be identified for recruitment. In addition to epidemiologic and dietary history data, blood, urine, and tumor tissue specimens will be requested for banking. These biologic specimens will enable a range of investigations. The mononuclear fraction, a source of viable cells, can be expanded in culture and utilized for gene expression assays, immortalization, and as a source of both RNA and DNA. The DNA will enable identification of a number of mutations in breast cancer predisposing genes. Live cells may also provide a functional resource in which gene expression (RNA or protein) and cellular metabolism can be studied. The plasma samples will be valuable to evaluate hormone levels, antibodies, internal xenobiotic exposure and other biomarkers. The storage of blood fractions provides independent resources for assessment of different measures of exposure and risk for disease. The red cells can be used for measurement of hemoglobin. The sample of blood collected on filter paper can also be used for PCR analysis of genomic. The plasma provides a rich source of proteins, hormones, and other constituents that can be used to assess health status, exposure to environmental agents, and other potential risk factors. The urine provides a means of measuring hormone levels, by-products of cellular metabolism, and other endpoints. Each of these blood fractions and the urine provide the capability of measuring different parameters of human exposure and disease susceptibility. The storage of paraffin embedded tumor samples from previously treated family members and fresh frozen tissue from individuals diagnosed during the funded interval will provide an invaluable resource to determine the principal genetic changes that occur during carcinogenesis potentially providing improved avenues for prevention, early detection, and treatment regimens. The Registry population will be followed prospectively through annual letters which will request information about changes: in cancer incidence in the family, family composition, and health status of family members. Educational seminar and group counseling sessions will be held to provide current research findings to Registry participants enabling a dialogue with scientists. A newsletter, mailed twice each year, will facilitate dissemination of pertinent information while providing a means for maintaining accurate mailing addresses for all family members. The proposed project joins the expertise and enthusiasm of scientists from seven major New York medical centers with members of voluntary and community-based organizations whose efforts have enhanced support and concern for breast cancer research.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Project--Cooperative Agreements (U01)
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Special Emphasis Panel (SRC (03))
Program Officer
Seminara, Daniela
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Columbia University (N.Y.)
Public Health & Prev Medicine
Schools of Public Health
New York
United States
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Dite, Gillian S; MacInnis, Robert J; Bickerstaffe, Adrian et al. (2017) Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer. Am J Epidemiol 185:487-500
Dite, Gillian S; MacInnis, Robert J; Bickerstaffe, Adrian et al. (2016) Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 25:359-65
Tehranifar, Parisa; Wu, Hui-Chen; Shriver, Tom et al. (2015) Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters. Am J Epidemiol 181:204-12
Rebbeck, Timothy R (see original citation for additional authors) (2015) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313:1347-61
Delgado-Cruzata, Lissette; Wu, Hui-Chen; Liao, Yuyan et al. (2014) Differences in DNA methylation by extent of breast cancer family history in unaffected women. Epigenetics 9:243-8
Work, Meghan E; Reimers, Laura L; Quante, Anne S et al. (2014) Changes in mammographic density over time in breast cancer cases and women at high risk for breast cancer. Int J Cancer 135:1740-4
Ferris, J S; Daly, M B; Buys, S S et al. (2014) Oral contraceptive and reproductive risk factors for ovarian cancer within sisters in the breast cancer family registry. Br J Cancer 110:1074-80
Antoniou, Antonis C; Casadei, Silvia; Heikkinen, Tuomas et al. (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497-506
Dite, Gillian S; Mahmoodi, Maryam; Bickerstaffe, Adrian et al. (2013) Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model. Breast Cancer Res Treat 139:887-96
Gracia-Aznarez, Francisco Javier; Fernandez, Victoria; Pita, Guillermo et al. (2013) Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 8:e55681

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