Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas

Bibliographic Details
Title: Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas
Authors: Taisuke Imamura, Ryo Ashida, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Yukiyasu Okamura, Katsuhisa Ohgi, Sumiko Ohnami, Takeshi Nagashima, Ken Yamaguchi
Source: Annals of Gastroenterological Surgery, Vol 7, Iss 3, Pp 491-502 (2023)
Publisher Information: Wiley, 2023.
Publication Year: 2023
Collection: LCC:Surgery
LCC:Diseases of the digestive system. Gastroenterology
Subject Terms: copy number variant, driver mutation, pancreatic cancer, prognosis, Surgery, RD1-811, Diseases of the digestive system. Gastroenterology, RC799-869
More Details: Abstract Background Pancreatic cancer (PC) is one of the most aggressive cancers worldwide. Although many studies have investigated genomic alterations, the genomic landscape of Japanese PC patients has not been fully elucidated. Methods We used whole‐exome sequencing, cancer gene panel deep‐sequencing, and microarray gene expression profiling data derived from the Japanese version of the Cancer Genome Atlas (JCGA) in 93 PC cases. Results Somatic driver mutations were identified in 65.6% of samples in 19 genes. The median tumor mutation burden (TMB) value was 0.24 Muts/Mb (interquartile range, 0.15–0.64 Muts/Mb). The commonly mutated genes were KRAS (58%), TP53 (40%), CDKN2A (10%), SMAD4 (10%), FGFR2 (9%), and PKHD1 (9%). Frequent germline variation genes were BRCA1 (8%), CDH1 (5%), MET (5%), MSH6 (5%), and TEK (5%). Frequent chromosomal arm alterations included copy number gains in 2q (42%), 7q (24%), and 3q (24%), and copy number losses in 19p (62%), 19q (47%), 12q (34%), and 7q (30%). A prognostic analysis according to the presence of driver mutations showed that overall survival (OS) in the driver mutation‐positive group was significantly worse in comparison to that of the driver mutation‐negative group (median, 23.1 vs 46.7 mo; P = .010). A Cox proportional hazards analysis for OS identified driver mutation (hazard ratio [HR], 1.89; P = .025) and lymph node metastasis (HR, 3.27; P = .002) as independent prognostic factors. Conclusion The present results from the JCGA dataset constitute a fundamental resource for genomic medicine for PC patients, especially in Japan.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2475-0328
Relation: https://doaj.org/toc/2475-0328
DOI: 10.1002/ags3.12636
Access URL: https://doaj.org/article/aee6e68457b443c18d26b791aa107919
Accession Number: edsdoj.6e68457b443c18d26b791aa107919
Database: Directory of Open Access Journals
More Details
ISSN:24750328
DOI:10.1002/ags3.12636
Published in:Annals of Gastroenterological Surgery
Language:English