VCCC Alliance Breast Cancer Grand Round with Prof Ian Campbell

Integrative approaches to identifying new causes of familial breast cancer

12 June 2024

Since the discovery of BRCA1 and BRCA2, no equivalent high penetrance predisposition genes have been found. Consequently, the genetic cause of the majority of hereditary breast cancer families remains unresolved.

Join Prof Ian Campbell to learn about a pioneering whole exome sequencing that revealed the remaining heritability must be due to numerous genes, utilising unique, large cohorts and clinical resources to integrate multiple types of data.

Breast cancer has a major heritable component, but since the discovery of BRCA1 and BRCA2, no equivalent high penetrance predisposition genes have been found. As a result, the genetic cause of the majority of hereditary breast cancer families remains unresolved. This represents a significant unmet clinical need since the absence of such information can jeopardise effective primary and secondary cancer prevention.

Prof Ian Campbell will share how whole exome sequencing has revealed that the remaining heritability must be due to numerous genes, each responsible for only a small proportion of families. Future studies needed to be highly powered to uncover such genes. Unique, large cohorts and clinical resources (Lifepool and Variants in Practice cohorts) are being used to integrate multiple types of data to discover new breast cancer predisposition genes.

The VCCC Alliance Breast Cancer Grand Round is targeted at a clinical audience and features open discussion about real cases and patients. While these cases are de-identified, the imagery, content and discussion can be graphic. It is not appropriate for consumer participants.