Study

An Unusual Genomic Variant of Pancreatic Ductal Adenocarcinoma with an Indolent Clinical Course

Study ID Alternative Stable ID Type
EGAS00001002192 Other

Study Description

We describe a patient with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA) who underwent a modified course of gemcitabine and stereotactic body radiation therapy. Whole exome sequencing of this patient's tumor revealed a simple genome landscape with no evidence of mutations, copy number changes, or structural alterations in genes most commonly associated with PDA, i.e. KRAS, CDKN2A, TP53 or SMAD4. An analysis of germline DNA revealed no pathogenic variants of significance. Whole exome and whole genome sequencing identified a somatic mutation of RNF213 and an inversion/deletion of CTNNA2 as the genetic basis of this PDA. Although PDA is classically characterized by a predictable set of mutations, these data suggest that alternate genetic paths to PDA may exist, which can be associated with a more indolent clinical course.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001003261
These are seven sequencing files form whole exome and whole genome of five tissue samples collected from one pancreatic cancer patient
HiSeq X Ten,Illumina HiSeq 2500 5

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