Because cancers in children are rare, many details about their biology remain unknown. In the field of cancer genetics, there's a limited understanding of how inherited genetic changes may contribute to the formation and growth of tumors. Making connections between particular gene mutations and disease requires a lot of data, which until recently has been largely unavailable for pediatric cancers. Now, tests like MSK-IMPACT can screen tumors for mutations in more than 500 genes as well as analyze patients' normal (germline) cells. In the largest study of its kind so far, researchers from Memorial Sloan Kettering's pediatric program, MSK Kids, are reporting germline genomic sequencing details for 751 pediatric patients treated for solid tumors.

Many of the associations we are learning about with this kind of testing were not previously known and have broadened our understanding of how inherited genes may be related to a predisposition to pediatric cancers, say genetic counselor Elise Fiala, the paper's first author. We're hoping to raise awareness about these connections and about how testing for these inherited genes might be clinically useful. This study shows that the criteria we currently use to determine who should receive germline testing are flawed, says physician-scientist Michael Walsh, the paper's senior author, who leads research on inherited pediatric cancer genomics within MSK's Robert and Kate Niehaus Center for Inherited Cancer Genomics.

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John
Editorial Assistant
Immunogenetics Open Access