Study: JGAS00000000105

Identifier

AccessionJGAS00000000105

Description

TitleHigh-coverage whole exome sequence in non-TRU-type lung adenocarcinomas
Abstract In order to elucidate the key genetic events in non-TRU-type lung cancer, we selected 43 non-TRU-type lung adenocarcinomas and performed a whole exome sequence and RNA-seq analysis using a next-generation sequencer. The results of the analysis identified mutations in TP53, KRAS and NKX2-1 as the top three significantly mutated genes, while the EGFR mutation was rare in this cohort. Eight NKX2-1 mutations (5 frameshift, 2 nonsense, and one missense) were identified, with one case harboring two distinct NKX2-1 mutations (missense and frameshift). All NKX2-1 mutants were transcriptionally inactive in reporter assays. Histologically, invasive mucinous adenocarcinomas accounted for most of the NKX2-1 mutations (5 cases), while 1 enteric and 1 acinar adenocarcinoma harbored the NKX2-1 mutation.
Study Type 1
Study TypeExome Sequencing
Study Type 2
Study TypeTranscriptome Sequencing

Publication

PubMed ID28677170
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0094
Registration date2017-05-18
Submitting organizationDepartment of Celluar Signaling, Graduate School of Medicine, The University of Tokyo
Principal InvestigatorHiroyuki Mano
Molecular Data TypeWhole Exome Sequencing
PlatformHiSeq2500
VendorIllumina
Comment
Molecular Data TypeRNA Sequencing
PlatformHiSeq2500
VendorIllumina
Comment
Primary Phenotypeadenocarcinoma/Non small cell lung cancer
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000110 Bam files of JMULK Exome sequencing 86 JGAP00000000003
JGAD00000000111 Fastq files of JMULK Transcriptome profiling by high-throughput sequencing 43 JGAP00000000003