Our results indicated that germline truncation and missense variants in several genes were under selection in the tumour, with ATM, BRCA1, BRCA2 and RAD51C determined as significant from both truncation and missense analyses and BAP1, BRIP1, FANCM, PALB2 and RAD51D from truncation analysis alone. The gene discussed is BAP1; the disease is neoplasm.