Exploring_the_landscape_of_somatic_mutations_in_normal_tissue_GI_MAP___WGS

Somatic mutations (burdens and signatures) and clonal dynamics in normal human tissues from the gastrointestinal tract of individuals with tumour predisposition syndromes and DNA damage repair defects.

Type: Cancer Genomics
Archiver: EGA European Genome-Phenome Archive

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001007958	Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to MUTYH-Associated Polyposis (MAP) is incompletely understood. Here, we sequenced normal cell DNAs from 10 individuals with MAP and study the somatic mutation burden and mutational signatures.	Illumina NovaSeq 6000	210

Exploring_the_landscape_of_somatic_mutations_in_normal_tissue___GI___MAP___WGS

Exploring_the_landscape_of_somatic_mutations_in_normal_tissue_GI_MAP___WGS