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.
Prof Ian Campbell leads large-scale sequencing approaches for the discovery of new familial breast and ovarian cancer predisposition genes, as well as translational studies into mainstreaming germline and genetic sequencing for women newly diagnosed with breast cancer.
