Whole genome sequencing analysis identifies recurrent structural alterations in esophageal squamous cell carcinoma.
Coding mutation
Copy number alteration
Druggable gene
Esophageal squamous cell carcinoma
FAT1
FGFR1
LRP1B
Mutational signature
Structural variation
Whole genome sequencing
Journal
PeerJ
ISSN: 2167-8359
Titre abrégé: PeerJ
Pays: United States
ID NLM: 101603425
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
10
2019
accepted:
14
05
2020
entrez:
4
7
2020
pubmed:
4
7
2020
medline:
4
7
2020
Statut:
epublish
Résumé
Esophageal squamous cell carcinoma (ESCC) is the predominant type of esophageal cancer in the Asian region, including Japan. A previous study reported mutational landscape of Japanese ESCCs by using exome sequencing. However, somatic structural alterations were yet to be explored. To provide a comprehensive mutational landscape, we performed whole genome sequencing (WGS) analysis of biopsy specimens from 20 ESCC patients in a Japanese population. WGS analysis identified non-silent coding mutations of
Identifiants
pubmed: 32617189
doi: 10.7717/peerj.9294
pii: 9294
pmc: PMC7323713
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e9294Informations de copyright
©2020 Dutta et al.
Déclaration de conflit d'intérêts
Kenta Nakai is an Academic Editor for PeerJ.
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