Whole exome sequencing identified germline pathogenic/likely pathogenic variants in DNA repair genes, such as MCM8, MCM9, WRN, MCPH1, BARD1, REV3L, EXO1, POLD1, RFC1, RPA1, ATM, and MLH3. In addition, other cancer-related genes, such as PPARG, CTC1, DCC and ALPK, were identified as candidate genes for LLS [13, 37–39]. Here, MCPH1 is linked to cancer.