The two most frequent and probably best characterized syndromes of this group are Fanconi anemia (FA) that results from germline pathogenic variants (PVs) in genes of the FA/Breast Cancer Susceptibility (BRCA) DNA repair pathway and dyskeratosis congenita (DC) in which telomere maintenance genes are affected (3, 4). This evidence concerns the gene FANCA and dyskeratosis congenita.