The thorough mutation screening of all coding sequences and exon-intron junctions of BRCA1/2 genes in a cohort of 200 Bulgarian women with primary invasive BC and with personal or family history of BC/OC, selected according to the recognised international criteria [17, 18] led to the identification of pathogenic mutations in 19.5 % of them (39/200). Here, BRCA1 is linked to breast cancer.