More on Whole Genome / Whole Exon Germline Sequencing – This Time in Children Who Get Cancer

News Blog readers may remember a previous post on germline mutations in children with autism spectrum disorder (with and without congenital anomalies). Now germline mutations have been compared in children with cancer and controls.[1] Among 1,120 affected children, 8.5% had predisposing germline gene mutations. This was an underestimate because it included only genes that were identified in advance, on the grounds of established relevance to carcinogenesis. The real value may be 50% higher. Only 40% of patients with likely pathogenic mutations had any family history. The CLAHRC WM Director suspects that children with germline mutations are at risk of second primary cancers, and that some second primary cancers previously attributed to treatment of the primary cancer are in fact caused by germline mutations. The CLAHRC WM Director proposes a study to examine the incidence of such mutations in children with secondary cancers.

— Richard Lilford, CLAHRC WM Director


  1. CZhang J, Walsh MF, Wu G, et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. N Engl J Med. 2015; 373:2336-46.

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