60 of the 104 BRCA1 and BRCA2 negative samples, that showed a higher expectation to be carrier of pathogenic mutations (i.e. HBC with BRCAPro5.1 greater than 40%, Male Breast Cancer or HBOC cases), were also subjected to BRCA1 and BRCA2 Sanger sequencing. Here, BRCA1 is linked to breast cancer.