Unlike the clinically relevant mutation spectrum of genes currently analysed on FFPE tumour DNA, such as KRAS or EGFR, where the distribution and number of mutations is small, thousands of clinically relevant variations in BRCA1 and BRCA2 have been described, and these are distributed widely throughout multiple, large coding regions and intron-exon boundaries [17]. The gene discussed is BRCA2; the disease is neoplasm.