DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer. Homo sapiens

The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across 485,577 CpGs . Samples were restored FFPE DNA extracted from breast tumours in 3 groups; BRCA1 germline mutated tumours (BRCA1), BRCA1 germline wildtype tumours from women from high risk families (BRCAx) and the designated test variant tumours (BRCA1UV). Overall design: Bisulphite converted DNA was hybridised to the Illumina Infinium 450k Human Methylation Beadchip