"Research indicates that no single gene is likely to account for a large proportion of the remaining unexplained genetic susceptibility to breast cancer," Professor Southey said.
"Although mutations in XRCC2 are rare, it is most likely that the remaining unknown breast cancer susceptibility genes will account for similar small proportions of the disease."
Initially, using massively parallel sequencing, researchers identified XRCC2 mutations in two families (in Melbourne and the Netherlands). This was followed by a larger series of studies using DNA from blood samples of 689 families with multiple members affected by breast cancer, and from 1308 women who were affected at an early age by breast cancer and recruited from the general population, as well as 1120 controls.
More XRCC2 mutations were detected in the breast cancer cases but not in the controls. These additional studies were conducted in Melbourne and at the International Agency for Research on Cancer (IARC) in France.
Co-first author Dr Daniel Park of the University's Department of Pathology (with Dr Fabienne Lesueur of IARC) said the study demonstrated the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases like breast cancer.
"Our study approach could be applied to many other common, complex diseases with components of unexplained heritability, such as colorectal and prostate cancers," he said.
Professor Southey oversaw this work with two long-standing collaborators and experts in the field of breast cancer genetics, Associate Professor Sean Tavtigian and Professor David Goldgar at the University of Utah.
|Contact: Rebecca Scott|
University of Melbourne