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Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single Lynch Syndrome patient

ABSTRACT: To investigate the longitudinal mutational patterns arising in Lynch Syndrome associated tumors we interrogated the genomes of five different cancers that arose over a period of 10 years in a patient who underwent resection in the absence of chemotherapy and radiation for each cancer. These included a papillary transitional cell carcinoma (PTCC) in the renal pelvis, a duodenal carcinoma, two separate CRCs that arose 3 years apart, and multiple regions of a triple negative breast cancer (TNBC). In each case we flow sorted tumor fractions from archived formalin fixed paraffin embedded (FFPE) tissue and profiled the tumor genomes with whole genome copy number variant (CNV) arrays and whole exome sequencing. These data were then used to identify the pathogenic variant underlying the diagnosis of LS, and to compare and contrast the CNV, mutational and neoepitope patterns across these divergent tumors that arose over a 10 year period. These results provide a unique analysis of distinct MSI+ tumors arising in a single LS patient.

ORGANISM(S): Homo sapiens

PROVIDER: GSE146670 | GEO | 2020/04/30

REPOSITORIES: GEO

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