Abstract
Companion Tumor Sequencing to Assess the Clinical Significance of Germline Sequencing in Children With Cancer
Highlights
The increasing uptake of multigene sequencing of germline DNA from children with cancer has led to an increase in the discovery of high- and moderate-penetrance germline pathogenic or likely pathogenic (P/LP) variants in persons with cancer.[1]
We used tumor zygosity of high/moderate-penetrance germline pathogenic or likely pathogenic variants (hmGPVs) in tumor suppressor genes (TSG) to ascertain whether hmGPVs are associated with tumorigenesis
Forty-one of 45 pediatric tumors (91%) with an hmGPV in a TSG with zygosity information had loss of heterozygosity (LOH) or a second somatic hit within the coding region of the gene (Figure)
Summary
The increasing uptake of multigene sequencing of germline DNA from children with cancer has led to an increase in the discovery of high- and moderate-penetrance germline pathogenic or likely pathogenic (P/LP) variants (here, combined as high/moderate-penetrance germline pathogenic variants, or hmGPVs) in persons with cancer.[1]. Some of these hmGPVs are truly associated with the cancer, whereas others are not. We set out to quantify the etiological association between hmGPVs in associated and nonassociated pediatric and adult-onset cancers
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