Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer

Lynch syndrome is a hereditary condition characterized by defective DNA mismatch repair and high incidence of several cancers, including urothelial cancers (UC) of the upper urinary tract and bladder. We set out to study the somatic landscape of LS-associated urothelial cancer (LS-UC) by analyzing 41 surgical tumor samples and 3 urine DNA samples from 34 LS-UC patients.

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

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000001220	Targeted Illumina sequencing of 41 tumor tissue samples and 3 urine tumor DNA samples from 34 patients with Lynch syndrome associated urothelial cancer. Target capture was performed using the UroScout hybridization capture panel targeting the coding regions of 25 urothelial cancer genes. Sequencing libraries were constructed using the Twist Biosciences Enzymatic Fragmentation DNA Library Prep kit. Sequencing was performed using an Illumina NovaSeq 6000 instrument with 2x150 bp paired sequencing.	Illumina NovaSeq 6000	44