Interestingly, among the 15 genes with germline mutations, 7 genes belong to Fanconi anaemia family of genes, including BRCA2, PALB2, BRIP1, RAD51C, FANCA, FANCI and FANCL, with 53.4% (31/58) of the patients carrying germline mutations in any of these genes. The gene discussed is FANCL; the disease is Fanconi anemia.