Molecular analysis of cancer genomes in children with Lynch syndrome: exploring causal associations

Lynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants in a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting a causal relationship. For LS-spectrum (LSS) cancers, including high-grade gliomas and colorectal cancer, causality has been supported by typical MMR-related tumor characteristics, but for non-LSS cancers, causality is unclear. This dataset contains 5 patients with Lynch Syndrome from the INFORM registry.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001011098	This dataset contains paired whole exome sequence data of 5 patients (control/tumor pairs) and paired whole genome sequencing data of 1 patient (control/tumor pair) with Lynch Syndrome from the INFORM registry. Paired sequencing was done mostly on Illumina HiSeq 4000, few on HiSeq2500 and NovaSeq 6000. The library preparation was either with Agilent SureSelect Human_All_Exon V5 (hg19) or with Agilent SureSelectXT HS Human_All_Exon V7 (hg19). The WGS samples were prepared with Agilent SureSelect WGS.	Illumina HiSeq 2500 Illumina HiSeq 4000 Illumina NovaSeq 6000	13