The second novel finding relies in the higher than expected prevalence of germline mutations, which were found in 17% of patients lacking a family or personal history of cancer and affected the known MEN1, VHL and CDKN1B genes, and the previously unreported DNA damage repair genes MUTYH, CHEK2 and BRCA2. The third novel finding is the identification of novel mutational mechanisms including a pattern of chromosomal rearrangements compatible with chromothripsis in 9% of cases and EWSR1 gene fusions (known as a driver alteration in Ewing’s sarcoma) in 3% of tumours. The gene discussed is MEN1; the disease is neoplasm.