These variants were predominantly specific to individual tumours, except for missense mutations detected in PALB2 (c.1651T>A; p.Tyr551Asn) and in CHEK2 (c.1261A>C; p.Thr421Pro), which were observed in 13 and 130 specimens, respectively, resulting in a high mutation burden, particularly for CHEK2. The gene discussed is PALB2; the disease is neoplasm.