Genomic and epigenomic integrative subtypes of renal cell carcinoma in a Japanese cohort

Akihiko Fukagawa, Natsuko Hama, Yasushi Totoki, Hiromi Nakamura, Yasuhito Arai, Mihoko Saito-Adachi, Akiko Maeshima, Yoshiyuki Matsui, Shinichi Yachida, Tetsuo Ushiku and Tatsuhiro Shibata ()
Additional contact information
Akihiko Fukagawa: National Cancer Center Research Institute
Natsuko Hama: National Cancer Center Research Institute
Yasushi Totoki: National Cancer Center Research Institute
Hiromi Nakamura: National Cancer Center Research Institute
Yasuhito Arai: National Cancer Center Research Institute
Mihoko Saito-Adachi: National Cancer Center Research Institute
Akiko Maeshima: National Cancer Center Hospital
Yoshiyuki Matsui: National Cancer Center Hospital
Shinichi Yachida: Osaka University
Tetsuo Ushiku: The University of Tokyo
Tatsuhiro Shibata: National Cancer Center Research Institute

Nature Communications, 2023, vol. 14, issue 1, 1-15

Abstract: Abstract Renal cell carcinoma (RCC) comprises several histological types characterised by different genomic and epigenomic aberrations; however, the molecular pathogenesis of each type still requires further exploration. We perform whole-genome sequencing of 128 Japanese RCC cases of different histology to elucidate the significant somatic alterations and mutagenesis processes. We also perform transcriptomic and epigenomic sequencing to identify distinguishing features, including assay for transposase-accessible chromatin sequencing (ATAC-seq) and methyl sequencing. Genomic analysis reveals that the mutational signature differs among the histological types, suggesting that different carcinogenic factors drive each histology. From the ATAC-seq results, master transcription factors are identified for each histology. Furthermore, clear cell RCC is classified into three epi-subtypes, one of which expresses highly immune checkpoint molecules with frequent loss of chromosome 14q. These genomic and epigenomic features may lead to the development of effective therapeutic strategies for RCC.

Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-023-44159-1 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-44159-1

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-023-44159-1

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().