The broad aim of this grant is to expand the material collected by the Australian Breast Cancer Family Study (ABCFS) between 1996 and 2000 on 1,5000 families as part of the CFRBCS, in terms of pathology, biospecimens, clinical data and epidemiology.
The specific aims are for this resource to contribute to the 13 Scientific Modules of this competitive UO1 grant application. This includes a 5 year Systematic Follow-up Study of all 20,000 consenting individuals (8,000 affected) recruited into the CFBRCS, so as to form a prospective cohort study for cancer families. It also includes a study of cases and 750 controls in both Australia and Canada, and replication of positive findings sought by within-family analyses of population-based resources from those two sites, and from Northern California. These two modules are included in this application. It is proposed that an Australian Breast Cancer Family Registry (ABCFR) be created by combining the above material with data collected in 1992- 1995 by the ABCFS on 466 case and 408 control families by the ABCFS using local funds, and by adding a new consortium, the Kathleen Cunningham Foundation Consortium for Research in Familial Breast Cancer (KconFab), also locally funded. Funding is sought for follow-up of an anticipated 400 families, and for testing for mutations in BRCA1 and BRCA2 in 500 KconFab families. As well as being coordinators on the two modules above, the PIs of the ABCFS have a major role on other modules, including the Prognosis and Pathology Characteristics of Heritable Breast Cancer, Estrogen Gene Variants and Breast Cancer, Penetrance and Prevalence of BRCA1/BRCA2 Mutations in the CFRBCS and Identification of Novel Genes Involved in Breast Cancer Susceptibility. Funding is sought for the contribution to these and other modules of data, DNA and administration of questionnaires. This Australian Registry will make a major contribution to the CFRBC's efforts to elucidate the genetic and environmental causes of breast cancer, and translate this into benefits for women at risk of, or affected by, breast cancer.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Project--Cooperative Agreements (U01)
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Special Emphasis Panel (ZCA1-SRRB-Y (O2))
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Seminara, Daniela
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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
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
Barrdahl, Myrto; Rudolph, Anja; Hopper, John L et al. (2017) Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium. Int J Cancer 141:1830-1840
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
Southey, Melissa C (see original citation for additional authors) (2016) PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet 53:800-811
Guo, Qi; Schmidt, Marjanka K; Kraft, Peter et al. (2015) Identification of novel genetic markers of breast cancer survival. J Natl Cancer Inst 107:
Pirie, Ailith; Guo, Qi; Kraft, Peter et al. (2015) Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Res 17:58
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
Park, Daniel J; Tao, Kayoko; Le Calvez-Kelm, Florence et al. (2014) Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov 4:804-15

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