Thus, we sequenced the EMSY coding region and exon-intron boundaries in a cohort of 71 Finnish BRCA1/2-negative HBOC patients pre-screened for mutations in seven known breast cancer genes and copy-number alterations at the genome-wide scale [29, 30] and further analysed the identified variants in additional HBOC patients and healthy controls. This evidence concerns the gene BRCA1 and breast carcinoma.