Journal article

Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

Logan C Walker, John F Pearson, George AR Wiggins, Graham G Giles, John L Hopper, Melissa C Southey



BACKGROUND: Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known genetic risk factors for breast cancer account for less than half of the average familial risk. Furthermore, the genetic factor(s) underlying an increased cancer risk for many women from multiple-case families remain unknown. Rare genomic duplications and deletions, known as copy number variants (CNVs), cover more than 10% of a human genome, are often not assessed in studies of genetic predisposition, and could account for some of the so-called "missing heritability". METHODS: We carried out a hypothesis-generating case-cont..

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Awarded by USA National Cancer Institute


Funding Acknowledgements

The Australia site of Breast Cancer Family Registry was supported by the National Health and Medical Research Council of Australia (NHMRC), the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and grant UM1 CA164920 from the USA National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The AMDTSS was funded by the NHMRC, Cancer Australia and the National Breast Cancer Foundation. Genotyping was funded by NHMRC as part of an Australia Fellowship awarded to JLH.