Breast and ovarian cancer susceptibility: what have we learned from large international consortia?

Advances in genomic technologies have enabled more rapid, less expensive genetic sequencing than was possible a few years ago. These technologies allow for the comprehensive genetic profiling for assessing risks to breast and ovarian cancers and include multiplex sequencing panels of several genes and panels of common single nucleotide polymorphisms (SNPs). However, the clinical utility of such multiplex gene and SNP panels depends on having accurate estimates of cancer risks for mutations in the genes included in such panels as well as cancer risk prediction models that consider the multifactorial aetiology to cancer susceptibility. Over the past decade international consortia, such as the Breast and Ovarian Cancer Association Consortia, the Consortium of Investigators of Modifiers of BRCA1/2 and the International BRCA1/2 Carrier Cohort Study have enabled us to accurately characterise the cancer risks for rare and common cancer susceptibility genetic variants; to understand how the genetic variants interact with each other; and how genetic variants interact with other lifestyle/hormonal risk factors for the disease. The presentation will review the key recent advances by these international consortia and how these are helping us to realise a more personalised risk-based cancer prevention and cancer control.