The broad objective of the Breast Cancer Family Registry (Breast CFR) is to establish and maintain a hypothesis-driven research infrastructure to provide a broad research agenda in the genetic epidemiology of breast and related cancers that covers a wide spectrum of interdisciplinary and translational projects. The Australian Breast Cancer Family Registry (ABCFR) has recruited 12,593 individuals from 3,091 families (average 4.1 per family). Of these, 8,694 individuals from 1,549 families (average 5.6 per family) were funded by the NIH. Data on deceased relatives or relatives who were unable to participate was collected using a proxy questionnaire for 13,870 relatives of the population-based cases, 8,011 relatives of the population-based controls and 1,750 relatives from the clinic-based families. We have collected 6,023 blood samples;4,071 from 1,865 population-based families (2.2 per family) and 684 from 217 clinic-based families (3.2 per family). A total of 207 mutation carriers (114 BRCAl, 93 BRCA2) have been identified. Consistent with the infrastructure and research agenda in the Collaborative Component, the ABCFR will contribute to maintaining and restructuring the Breast CFR by: conducting a systematic follow-up of all registrants, including probands and male and female relatives;administering the core risk factor questionnaire and updating their personal and family history of cancer;expanding recruitment within carrier families and/or new breast cancer cases identified since baseline;collecting treatment and outcome data to facilitate clinical and translational research;continuing to maintain and expand the biospecimen collection;establishing lymphoblastoid cell lines, extracting DNA and establishing a centralized back-up of biospecimens at Coriell Cell Repositories;performing further BRCAl and BRCA2 mutation testing, including testing for large genomic alterations, maintaining and further developing the ABCFR Informatics Unit;working in collaboration with the new Informatics Support Center (ISC) at the Research Triangle Institute (RTI) to facilitate the use of the ABCFR data for research;contributing to study design, analysis and data management, contributing local expertise to enable collaborative behavioral research to be conducted in Australia and interdigitating with research conducted in other sites;providing an administrative structure to facilitate the future research and infrastructure activities listed above;and traveling to face-to-face meetings to continue the strong collaborative links already established.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Project--Cooperative Agreements (U01)
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Special Emphasis Panel (ZCA1-SRRB-Y (M1))
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Schully, Sheri D
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University of Melbourne
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Scott, Cameron M; Wong, Ee Ming; Joo, JiHoon Eric et al. (2018) Genome-wide DNA methylation assessment of 'BRCA1-like' early-onset breast cancer: Data from the Australian Breast Cancer Family Registry. Exp Mol Pathol 105:404-410
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Lin, Wei-Yu (see original citation for additional authors) (2015) Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. Hum Mol Genet 24:285-98
Rudolph, Anja; Milne, Roger L; Truong, Thérèse et al. (2015) Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. Int J Cancer 136:E685-96
Khan, Sofia; Greco, Dario; Michailidou, Kyriaki et al. (2014) MicroRNA related polymorphisms and breast cancer risk. PLoS One 9:e109973

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