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

Li Chen1,2, Liu Yang1,2, Ling Yao1

  • 1Key Laboratory of Breast Cancer in Shanghai, Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai, 200032, China.

Nature Communications
|April 12, 2018
PubMed

Insights

Somatic mutations in PIK3CA and PIK3R1 are common in Chinese breast cancer, driving tumor growth. Identifying impactful mutations offers new targets for PI3K-targeted therapy in precision oncology.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The phosphoinositide 3-kinase (PI3K) pathway is frequently dysregulated in various cancers, promoting tumor development and progression.
  • Understanding the spectrum and impact of PI3K pathway mutations is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the prevalence and diversity of somatic mutations in key PI3K pathway genes (PIK3CA, PIK3R1, AKT3, PTEN) in Chinese breast cancer patients.
  • To identify impactful mutations that confer clonal advantage and explore their therapeutic implications.

Main Methods:

  • Somatic mutation profiling of PIK3CA, PIK3R1, AKT3, and PTEN in a cohort of Chinese breast cancer patients.
  • Development and application of a recombination-based mutation barcoding (ReMB) library to assess mutation impact on proliferation and drug response.
  • Analysis of mutation patterns, including co-occurrence and mutual exclusivity, and association with clinical features like hormone receptor status.

Main Results:

  • High prevalence of somatic mutations in PIK3CA (44%), PIK3R1 (17%), AKT3 (15%), and PTEN (12%) in Chinese breast cancer, with 60 novel mutations identified.
  • Frequent co-occurrence of multiple mutations, particularly PIK3CA and PIK3R1 (9.0%), leading to PI3K pathway hyperactivity.
  • Identification of impactful PIK3CA and PIK3R1 mutations, some with previously unknown significance, exhibiting a mutually exclusive pattern.
  • PIK3CA impactful mutations showed a strong association with hormone receptor positivity.

Conclusions:

  • Somatic mutations in PI3K pathway genes are diverse and prevalent in Chinese breast cancer, significantly contributing to oncogenesis.
  • Impactful PIK3CA and PIK3R1 mutations play a critical role in driving breast cancer, offering potential therapeutic targets.
  • These findings underscore the importance of PI3K pathway alterations in breast cancer and highlight opportunities for precision oncology through targeted therapies.

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