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

Author

Listed:
  • Li Chen

    (Fudan University Shanghai Cancer Center
    Fudan University)

  • Liu Yang

    (Fudan University Shanghai Cancer Center
    Fudan University)

  • Ling Yao

    (Fudan University Shanghai Cancer Center)

  • Xia-Ying Kuang

    (Sun Yat-Sen University)

  • Wen-Jia Zuo

    (Fudan University Shanghai Cancer Center
    Fudan University)

  • Shan Li

    (Fudan University Shanghai Cancer Center)

  • Feng Qiao

    (Fudan University Shanghai Cancer Center)

  • Yi-Rong Liu

    (Fudan University Shanghai Cancer Center
    Fudan University)

  • Zhi-Gang Cao

    (Fudan University Shanghai Cancer Center)

  • Shu-Ling Zhou

    (Fudan University
    Fudan University Shanghai Cancer Center)

  • Xiao-Yan Zhou

    (Fudan University
    Fudan University Shanghai Cancer Center)

  • Wen-Tao Yang

    (Fudan University
    Fudan University Shanghai Cancer Center)

  • 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
    Fudan University)

  • Zhi-Ming Shao

    (Fudan University Shanghai Cancer Center
    Fudan University)

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.

Suggested Citation

  • 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 & Zhi-, 2018. "Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients," Nature Communications, Nature, vol. 9(1), pages 1-17, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-03867-9
    DOI: 10.1038/s41467-018-03867-9
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    Cited by:

    1. Xiang Ge Luo & Jack Kuipers & Niko Beerenwinkel, 2023. "Joint inference of exclusivity patterns and recurrent trajectories from tumor mutation trees," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    2. Lucia Ruojia Wu & Peng Dai & Michael Xiangjiang Wang & Sherry Xi Chen & Evan N. Cohen & Gitanjali Jayachandran & Jinny Xuemeng Zhang & Angela V. Serrano & Nina Guanyi Xie & Naoto T. Ueno & James M. Re, 2022. "Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling," Nature Communications, Nature, vol. 13(1), pages 1-9, December.

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