On the other hand, we performed additional genetic analysis on the available tumors to check for the presence of TP53, CHEK2 and POT1. WES was performed on tumor tissue samples from four patients (II4/8/10/12), consisting of lung tumor samples from II4/8/10 and a leiomyosarcoma sample from II12. The gene discussed is CHEK2; the disease is leiomyosarcoma.