We also found that having five or more of nine pre-specified tumour morphology features defined a morphological profile that contained 27 (93%) of the 29 known BRCA1 mutation carriers [12], and of the 52 with this morphological profile who were not found to carry a germline BRCA1 mutation, 16 (31%) were found to have methylation of the BRCA1 promoter region in DNA from peripheral blood [13]. The gene discussed is BRCA1; the disease is neoplasm.