PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study
Abstract Purpose PIK3CA gene mutations have been identified in various malignancies, but the prevalence of specific mutations and their role in breast cancer development remain uncertain. This study aimed to investigate the clinicopathological significance and prognostic impact of PIK3CA mutations i...
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BMC
2025-02-01
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| Online Access: | https://doi.org/10.1186/s12885-025-13486-5 |
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| author | Min Yan Zhiqiang Zong Wenyue Guo Xinyu Li Jingjing Li Xi Xia Xiaolei Wang Yuan Kong Fanfan Li |
| author_facet | Min Yan Zhiqiang Zong Wenyue Guo Xinyu Li Jingjing Li Xi Xia Xiaolei Wang Yuan Kong Fanfan Li |
| author_sort | Min Yan |
| collection | DOAJ |
| description | Abstract Purpose PIK3CA gene mutations have been identified in various malignancies, but the prevalence of specific mutations and their role in breast cancer development remain uncertain. This study aimed to investigate the clinicopathological significance and prognostic impact of PIK3CA mutations in breast cancer. Methods Five common PIK3CA mutations (H1047R and H1047L in exon 20, and E542K, E545K, and E545D in exon 9) were identified in breast cancer patients using amplification refractory mutation system (ARMS) allele-specific PCR. The study examined the relationships between these mutations and clinicopathologic factors, such as age, HR status, Her2 status, lymph node involvement, distant metastasis, clinicopathologic stage, and progression-free survival (PFS). Results A total of 40 female breast cancer patients were included in this study. Twenty mutations were detected, with 12 located in exon 20 and 8 in exon 9. The most frequent mutation was H1047R in exon 20, present in 11 patients (14.8%). PIK3CA mutations were more commonly observed in patients with HR + breast cancer (P < 0.05). No significant correlation was found between PIK3CA mutations and age, Her2 status, lymph node involvement, distant metastasis, clinicopathologic stage, or Ki-67 expression. Database analysis from the cBioPortal online database showed that the median PFS (95%CI) of the PIK3CA unaltered group [22.93 (17.25–48.30) months] was higher than that of the altered group [12.98 (8.18–18.14) months]. In this study, PIK3CA mutant-type group [13.00 (10.56–15.45) months] had lower median PFS than that of the wild-type group [25.00 (13.46–36.55) months] in all breast cancer patients, the difference was significant (P = 0.004). Further, compared with PIK3CA wild-type, mutant-type was associated with poor PFS in HR + and Her2 + breast cancer patients (P < 0.05). In addition, positive H1047R mutation in PIK3CA was associated with poor PFS of breast cancer (P < 0.05). Conclusions Our data and public database research show that the PIK3CA mutation is a significant gene change in breast cancer, and the PIK3CA mutation was associated with a shorter PFS in all, HR + and Her2 + breast cancer patients. This research confirmed the important role of PIK3CA in breast cancer. |
| format | Article |
| id | doaj-art-e2431a80c40547259f64e6bca85b4849 |
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| publishDate | 2025-02-01 |
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| spelling | doaj-art-e2431a80c40547259f64e6bca85b48492025-08-20T02:01:35ZengBMCBMC Cancer1471-24072025-02-0125111010.1186/s12885-025-13486-5PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort studyMin Yan0Zhiqiang Zong1Wenyue Guo2Xinyu Li3Jingjing Li4Xi Xia5Xiaolei Wang6Yuan Kong7Fanfan Li8Department of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityDepartment of Surgery, Division of Life Sciences and Medicine, the First Affiliated Hospital of USTC, University of Science and Technology of ChinaDepartment of Oncology, the Second Afliated Hospital of Anhui Medical UniversityAbstract Purpose PIK3CA gene mutations have been identified in various malignancies, but the prevalence of specific mutations and their role in breast cancer development remain uncertain. This study aimed to investigate the clinicopathological significance and prognostic impact of PIK3CA mutations in breast cancer. Methods Five common PIK3CA mutations (H1047R and H1047L in exon 20, and E542K, E545K, and E545D in exon 9) were identified in breast cancer patients using amplification refractory mutation system (ARMS) allele-specific PCR. The study examined the relationships between these mutations and clinicopathologic factors, such as age, HR status, Her2 status, lymph node involvement, distant metastasis, clinicopathologic stage, and progression-free survival (PFS). Results A total of 40 female breast cancer patients were included in this study. Twenty mutations were detected, with 12 located in exon 20 and 8 in exon 9. The most frequent mutation was H1047R in exon 20, present in 11 patients (14.8%). PIK3CA mutations were more commonly observed in patients with HR + breast cancer (P < 0.05). No significant correlation was found between PIK3CA mutations and age, Her2 status, lymph node involvement, distant metastasis, clinicopathologic stage, or Ki-67 expression. Database analysis from the cBioPortal online database showed that the median PFS (95%CI) of the PIK3CA unaltered group [22.93 (17.25–48.30) months] was higher than that of the altered group [12.98 (8.18–18.14) months]. In this study, PIK3CA mutant-type group [13.00 (10.56–15.45) months] had lower median PFS than that of the wild-type group [25.00 (13.46–36.55) months] in all breast cancer patients, the difference was significant (P = 0.004). Further, compared with PIK3CA wild-type, mutant-type was associated with poor PFS in HR + and Her2 + breast cancer patients (P < 0.05). In addition, positive H1047R mutation in PIK3CA was associated with poor PFS of breast cancer (P < 0.05). Conclusions Our data and public database research show that the PIK3CA mutation is a significant gene change in breast cancer, and the PIK3CA mutation was associated with a shorter PFS in all, HR + and Her2 + breast cancer patients. This research confirmed the important role of PIK3CA in breast cancer.https://doi.org/10.1186/s12885-025-13486-5PIK3CAH1047R mutationBreast cancerPoor survival |
| spellingShingle | Min Yan Zhiqiang Zong Wenyue Guo Xinyu Li Jingjing Li Xi Xia Xiaolei Wang Yuan Kong Fanfan Li PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study BMC Cancer PIK3CA H1047R mutation Breast cancer Poor survival |
| title | PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study |
| title_full | PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study |
| title_fullStr | PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study |
| title_full_unstemmed | PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study |
| title_short | PIK3CA gene mutation status associated with poor prognosis of breast cancer: a retrospective cohort study |
| title_sort | pik3ca gene mutation status associated with poor prognosis of breast cancer a retrospective cohort study |
| topic | PIK3CA H1047R mutation Breast cancer Poor survival |
| url | https://doi.org/10.1186/s12885-025-13486-5 |
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