In addition, 8 out of 16 tumours harboured mutations in well-established DNA repair-related tumour-suppressor genes, including FANCE (Fanconi Anemia Complementation Group E gene), FANCF (Fanconi Anaemia Complementation Group F gene), MSH6 (MutS Homolog 6 gene), PMS1 (PMS1 Homolog1, Mismatch Repair System Component gene), PMS2 (PMS1 Homolog 2, Mismatch Repair System Component gene), ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit gene), or SETD2 (SET Domain Containing 2 gene), suggestive of disrupted DNA repair pathway signalling in these tumours. The gene discussed is MSH6; the disease is Fanconi anemia.