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The GENESIS exome sequencing project

This project aims at identifying missing genetic susceptibility factors for breast cancer using GENESIS (GENE SISters), a unique national existing resource for familial breast cancer research where detailed clinical, epidemiological and phenotypic data have been collected for more than 4 000 women. In an exploratory phase, exome sequencing was performed in a highly selected set of 100 women with a young age at diagnosis and/or a strong family history of breast cancer. A custom Agilent SureSelect target enrichment kit was next designed to systematically screen the entire coding sequence of 115 candidate genes identified in the analysis of the exomes, in 1200 cases and 1200 controls from GENESIS. This second step will allow characterizing potential disease-causing variants.