In some families several individuals are affected by breast cancer. This can be due to a mutation in a gene, such as BRCA1. Only a small number of cancer genes have been definitively established to date. In many of the families no mutation in any known gene can be found, suggesting that there are additional cancer genes to be discovered.
Due to the lack of research in globally diverse samples, we might be missing genes that are important in non-European populations. This could lead to severe disadvantages for women from other ancestral backgrounds in the context of clinical genetics. We have collected data from women with a strong family history of breast cancer from Pakistan and Colombia. They do not carry any of the known breast cancer genes. Whole-genome sequencing was carried out. The aim of the project is to find novel breast cancer genes.