Finding the missing genes linked to familial breast cancer

The discovery of BRCA1 and BRCA2, genes that predispose family members to a high risk of developing breast cancer was an important break-through in breast cancer research.

It is now understood that these genes account for only two per cent of all breast cancer cases and the genetic cause of the majority of familial breast cancer remains unknown.

Prof Campbell has identified 40 genes for which there is evidence that they could also be responsible for a genetic predisposition to breast cancer.

Until recently, the identification of new breast cancer genes would have been of limited use due to the time and cost of genetic testing, but the advent of advanced gene sequencing technologies has now made it possible for entire panels of genes to be screened at a fraction of the time and cost of the traditional testing methods used for breast cancer genes BRCA1 and BRCA2 alone.

Consequently, in this project Prof Campbell will sequence his 40 genes across a large international cohort of 5,000 familial breast cancer cases (who have tested negative for the BRCA genes), and 5,000 control cases, including Australian women, to identify new genes responsible for familial breast cancers.

Identifying the genetic causes for familial breast cancer can provide significant opportunities for primary and secondary prevention of breast cancer, as well as improving risk assessment, genetic counselling and management for individuals in high-risk breast cancer families.