The prevalence of FANCD2 c.2715 + 1G > A mutation among the studied cohorts supports the previously established link between FA and breast cancer: monoallelic mutations in BRCA2/FANCD1, BRIP1/FANCJ, PALB2/FANCN, RAD51C/FANCO and BRCA1/FANCS genes predispose to breast and/or ovarian cancer, while their biallelic mutations cause FA, characterized by genomic instability, bone marrow failure, developmental abnormalities and increased incidence of cancer, particularly leukemia14, 30, 31. This evidence concerns the gene BRCA2 and breast carcinoma.