Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients

Li Chen, Liu Yang, Ling Yao, Xia-Ying Kuang, Wen-Jia Zuo, Shan Li, Feng Qiao, Yi-Rong Liu, Zhi-Gang Cao, Shu-Ling Zhou, Xiao-Yan Zhou, Wen-Tao Yang, Jin-Xiu Shi, Wei Huang, Xin Hu () and Zhi-Ming Shao ()
Additional contact information
Li Chen: Fudan University Shanghai Cancer Center
Liu Yang: Fudan University Shanghai Cancer Center
Ling Yao: Fudan University Shanghai Cancer Center
Xia-Ying Kuang: Sun Yat-Sen University
Wen-Jia Zuo: Fudan University Shanghai Cancer Center
Shan Li: Fudan University Shanghai Cancer Center
Feng Qiao: Fudan University Shanghai Cancer Center
Yi-Rong Liu: Fudan University Shanghai Cancer Center
Zhi-Gang Cao: Fudan University Shanghai Cancer Center
Shu-Ling Zhou: Fudan University
Xiao-Yan Zhou: Fudan University
Wen-Tao Yang: Fudan University
Jin-Xiu Shi: Chinese National Human Genome Center and Shanghai Industrial Technology Institute (SITI)
Wei Huang: Chinese National Human Genome Center and Shanghai Industrial Technology Institute (SITI)
Xin Hu: Fudan University Shanghai Cancer Center
Zhi-Ming Shao: Fudan University Shanghai Cancer Center

Nature Communications, 2018, vol. 9, issue 1, 1-17

Abstract: Abstract Deregulation of the phosphoinositide 3-kinase (PI3K) pathway contributes to the development and progression of tumors. Here, we determine that somatic mutations in PIK3CA (44%), PIK3R1 (17%), AKT3 (15%), and PTEN (12%) are prevalent and diverse in Chinese breast cancer patients, with 60 novel mutations identified. A high proportion of tumors harbors multiple mutations, especially PIK3CA plus PIK3R1 mutations (9.0%). Next, we develop a recombination-based mutation barcoding (ReMB) library for impactful mutations conferring clonal advantage in proliferation and drug responses. The highest-ranking PIK3CA and PIK3R1 mutations include previously reported deleterious mutations, as well as mutations with unknown significance. These PIK3CA and PIK3R1 impactful mutations exhibit a mutually exclusive pattern, leading to oncogenesis and hyperactivity of PI3K pathway. The PIK3CA impactful mutations are tightly associated with hormone receptor positivity. Collectively, these findings advance our understanding of PI3K impactful mutations in breast cancer and have important implications for PI3K-targeted therapy in precision oncology.

Date: 2018
References: Add references at CitEc
Citations: View citations in EconPapers (2)

Downloads: (external link)
https://www.nature.com/articles/s41467-018-03867-9 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:9:y:2018:i:1:d:10.1038_s41467-018-03867-9

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

DOI: 10.1038/s41467-018-03867-9

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 ().