Interestingly, germline mutation rate of members of the Fanconi anaemia family of genes (including BRCA2, PALB2, BRIP1, RAD51C, FANCA, FANCI and FANCL) was 53.4% (31/58) among the patients with germline mutations in our cohort. The gene discussed is PALB2; the disease is Fanconi anemia.