Given the high suspicion, genetic testing for a panel of cancer susceptibility genes (ATM, PALB2, CDH1, CHEK2, NBN, PTEN, STK11, TP53, BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, APC) was subsequently proposed. The gene discussed is PMS2; the disease is cancer.