“Breast cancer is the main cause of cancer deaths among Caribbean women, accounting for 14%-30% of cancer deaths. This disease has a significant impact on women’s health and is two times higher in the Caribbean compared to the USA” (Razzaghi H et al., 2016). Although there are many risk factors that contribute to this disease onset, including age, weight and alcohol consumption, 5-10% of cases are thought to be caused by mutations in inherited cancer susceptibility genes. Currently there are 11 known genes linked to higher breast cancer susceptibility identified in European datasets. To date there is no study looking for novel Caribbean-specific genetic markers of breast cancer.

The Caribbean genome is the unique result of generations of ethnic mixing between Africa, Indigenous America, Latin America, India, and Europe. It is likely that this mixing has led to many distinct genetic predispositions that have yet to be found. This project aims to unlock the Caribbean human genome to improve breast cancer health outcomes by implementing a pilot study in Bermuda. This pilot consists of conducting whole genome sequencing on a total of 100 participants (50 women with breast cancer and 50 matched controls without a family history of cancer) to establish an experimental pipeline for patient onboarding, sample collection, and processing and data analysis with the potential to scale up to wider breast cancer cohorts throughout the Caribbean