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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 128 - 140 (13page)
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Purpose The prevalence of PIK3CA in Chinese breast cancer patients may be underestimated. Therefore, we investigated the distribution of somatic PIK3CA/AKT1mutations in Chinese breast cancer patients and explored their roles in tumor phenotypes and disease prognosis. Materials and Methods Tumors from 507 breast cancer patients were prospectively collected from the West China Hospital between 2008 and 2013. Whole exons of AKT1 and PIK3CAwere detected in freshfrozen tumors using next-generation sequencing, and correlations between PIK3CA/AKT1 mutations and clinicopathological features were analyzed. Results The AKT1mutation was found in 3.6% (18/507) of patients. Tumors from patients that carried the AKT1mutation were estrogen receptor (ER)+/progesterone receptor (PR)+/human epidermal growth factor receptor 2 (HER2) and were more likely to have high expression levels of Ki67. The prevalence of the PIK3CA mutation was 46.5% (236/507), and 35 patients carried two or three variants of the PIK3CA gene. PIK3CA mutations were associated with ER+/PR+/HER2 status. The prognosis of patients with one mutation in PIK3CA (or PIK3CA/AKT1) was not significantly different than that of patients with wild-type PIK3CA (or PIK3CA/AKT1), while patients with two or three variants in PIK3CA (or PIK3CA/AKT1) exhibited poorer outcomes in the entire group and in all three subgroups (ER+, HER2, Ki67 high), particularly with respect to overall survival. Conclusion A high frequency of somatic PIK3CA mutations was detected in Chinese breast cancer patients. In addition to the mutation frequency, the tumor mutational burden of the PIK3CA and AKT1 genes should also be of concern, as they may be associated with poor prognosis.
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참고문헌 (33)
참고문헌 신청
Rodon J / 2013 / Development of PI3K inhibitors : lessons learned from early clinical trials / Nat Rev Clin Oncol 10:143~153
Thorpe LM / 2015 / PI3K in cancer : divergent roles of isoforms, modes of activation and therapeutic targeting / Nat Rev Cancer 15:7~24
Cancer Genome Atlas Network / 2012 / Comprehensive molecular portraits of human breast tumours / Nature 490:61~70
Cizkova M / 2013 / Outcome impact of PIK3CA mutations in HER2-positive breast cancer patients treated with trastuzumab / Br J Cancer 108:1807~1809
Loi S / 2013 / Somatic mutation profiling and associations with prognosis and trastuzumab benefit in early breast cancer / J Natl Cancer Inst 105:960~967
Thorpe LM / 2015 / PI3K in cancer : divergent roles of isoforms, modes of activation and therapeutic targeting / Nat Rev Cancer 15:7~24
Cancer Genome Atlas Network / 2012 / Comprehensive molecular portraits of human breast tumours / Nature 490:61~70
Cizkova M / 2013 / Outcome impact of PIK3CA mutations in HER2-positive breast cancer patients treated with trastuzumab / Br J Cancer 108:1807~1809
Loi S / 2013 / Somatic mutation profiling and associations with prognosis and trastuzumab benefit in early breast cancer / J Natl Cancer Inst 105:960~967
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