The exomic landscape of t(14,18) negative diffuse follicular lymphoma with 1p36 deletion

Study ID Alternative Stable ID Type
EGAS00001002594 Other

Study Description

t(14,18) negative diffuse follicular lymphoma with 1p36 deletion is a well characterized variant of follicular lymphoma with typical clinical, morphological, immunophenotypical and genetic features. The genetic landscape of this variant is however largely unknown. We performed exome sequencing of six well characterised cases and detected 1642 single nucleotide variations and 641 insertions-deletions not reported in common databases (dbSNP and 1000G). We report several recurrent mutations, among which CREBBP, STAT6, KMT2D, HEATR6, LAMA5 and VPS13B are the most prevalent. Pathway annotation using GSEA showed an enrichment in mutated genes belonging to the MAPK pathway.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001004386 Whole Exome Sequencing reads consisting of BAM paired end reads from Follicular Lymphoma samples. Illumina HiSeq 2500 7

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