Identifying the missing heritability of breast cancer via “next generation” collaboration.
Coordinated international collaboration offers great potential to advance the identification of additional breast cancer susceptibility genes by increasing the likelihood of identifying functionally relevant genetic variants in the same genes in multiple families.
A new consortium, COMPLEXO (a name chosen to reflect the complexity of the exome), has been formed to facilitate collaborations between researchers actively applying massively parallel sequencing to understand the genetics of breast and ovarian cancer.
The consortia has defined activities aimed at bringing together data and resources suitable for exome/genome sequencing initiatives and large case-control-family study resources suitable for validation of candidate breast cancer susceptibility genes in which rare mutations are associated with high to moderate risk of breast cancer.
The aim of COMPLEXO is to bring to massively parallel sequencing the same power of large sample sets that have proven so successful in the consortia examining the role of common variants in cancer populations (BCAC, CIMBA, iCOGS). However, sequencing studies provide additional challenges in terms of defining specific modes of collaboration given differences in platforms, bioinformatics platforms, and the integration of ongoing studies in many centers.