Cargando…
Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis
BACKGROUND: Breast cancer is the most common cancer type that affects women. In hormone receptor–positive (HR+), human epidermal growth factor receptor 2−negative (HER2–) advanced breast cancer (ABC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the most frequen...
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466395/ https://www.ncbi.nlm.nih.gov/pubmed/37655108 http://dx.doi.org/10.3389/fonc.2023.1192946 |
_version_ | 1785098873619873792 |
---|---|
author | Chao, Ta-Chung Tsai, Yi-Fang Liu, Chun-Yu Lien, Pei-Ju Lin, Yen-Shu Feng, Chin-Jung Chen, Yen-Jen Lai, Jiun-I. Hsu, Chih-Yi Lynn, Jiun Jen Huang, Chi-Cheng Tseng, Ling-Ming |
author_facet | Chao, Ta-Chung Tsai, Yi-Fang Liu, Chun-Yu Lien, Pei-Ju Lin, Yen-Shu Feng, Chin-Jung Chen, Yen-Jen Lai, Jiun-I. Hsu, Chih-Yi Lynn, Jiun Jen Huang, Chi-Cheng Tseng, Ling-Ming |
author_sort | Chao, Ta-Chung |
collection | PubMed |
description | BACKGROUND: Breast cancer is the most common cancer type that affects women. In hormone receptor–positive (HR+), human epidermal growth factor receptor 2−negative (HER2–) advanced breast cancer (ABC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the most frequently mutated gene associated with poor prognosis. This study evaluated the frequency of PIK3CA mutations in the Taiwanese breast cancer population. METHODOLOGY: This is a retrospective study; patient data were collected for 2 years from a next-generation sequencing database linked to electronic health records (EHRs). The primary endpoint was the regional prevalence of PIK3CA mutation. The secondary endpoints were to decipher the mutation types across breast cancer subtype, menopausal status, and time to treatment failure after everolimus (an mTOR inhibitor) or cyclin-dependent kinase 4/6 (CDK4/6) inhibitor treatment. RESULTS: PIK3CA mutations were identified in 278 of 728 patients (38%). PIK3CA mutations were reported in 43% of patients with HR−/HER2+ subtype and 42% of patients with HR+/HER2– postmenopausal status. A lower prevalence of PIK3CA mutations was observed in triple-negative (27%) and HR+/HER2– premenopausal patients (29%). The most common mutation was at exon 20 (H1047R mutation, 41.6%), followed by exon 9 (E545K mutation, 18.9% and E542K mutation, 10.3%). Among patients treated with CDK4/6 inhibitors, the median time to treatment failure was 12 months (95% CI: 7-21 months) in the PIK3CA mutation cohort and 16 months (95% CI: 11-23 months) in the PIK3CA wild-type cohort, whereas patients receiving an mTOR inhibitor reported a median time to treatment failure of 20.5 months (95% CI: 8-33 months) in the PIK3CA mutation cohort and 6 months (95% CI: 2-9 months) in the PIK3CA wild-type cohort. CONCLUSION: A high frequency of PIK3CA mutations was detected in Taiwanese patients with breast cancer, which was consistent with previous studies. Early detection of PIK3CA mutations might influence therapeutic decisions, leading to better treatment outcomes. |
format | Online Article Text |
id | pubmed-10466395 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104663952023-08-31 Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis Chao, Ta-Chung Tsai, Yi-Fang Liu, Chun-Yu Lien, Pei-Ju Lin, Yen-Shu Feng, Chin-Jung Chen, Yen-Jen Lai, Jiun-I. Hsu, Chih-Yi Lynn, Jiun Jen Huang, Chi-Cheng Tseng, Ling-Ming Front Oncol Oncology BACKGROUND: Breast cancer is the most common cancer type that affects women. In hormone receptor–positive (HR+), human epidermal growth factor receptor 2−negative (HER2–) advanced breast cancer (ABC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the most frequently mutated gene associated with poor prognosis. This study evaluated the frequency of PIK3CA mutations in the Taiwanese breast cancer population. METHODOLOGY: This is a retrospective study; patient data were collected for 2 years from a next-generation sequencing database linked to electronic health records (EHRs). The primary endpoint was the regional prevalence of PIK3CA mutation. The secondary endpoints were to decipher the mutation types across breast cancer subtype, menopausal status, and time to treatment failure after everolimus (an mTOR inhibitor) or cyclin-dependent kinase 4/6 (CDK4/6) inhibitor treatment. RESULTS: PIK3CA mutations were identified in 278 of 728 patients (38%). PIK3CA mutations were reported in 43% of patients with HR−/HER2+ subtype and 42% of patients with HR+/HER2– postmenopausal status. A lower prevalence of PIK3CA mutations was observed in triple-negative (27%) and HR+/HER2– premenopausal patients (29%). The most common mutation was at exon 20 (H1047R mutation, 41.6%), followed by exon 9 (E545K mutation, 18.9% and E542K mutation, 10.3%). Among patients treated with CDK4/6 inhibitors, the median time to treatment failure was 12 months (95% CI: 7-21 months) in the PIK3CA mutation cohort and 16 months (95% CI: 11-23 months) in the PIK3CA wild-type cohort, whereas patients receiving an mTOR inhibitor reported a median time to treatment failure of 20.5 months (95% CI: 8-33 months) in the PIK3CA mutation cohort and 6 months (95% CI: 2-9 months) in the PIK3CA wild-type cohort. CONCLUSION: A high frequency of PIK3CA mutations was detected in Taiwanese patients with breast cancer, which was consistent with previous studies. Early detection of PIK3CA mutations might influence therapeutic decisions, leading to better treatment outcomes. Frontiers Media S.A. 2023-08-15 /pmc/articles/PMC10466395/ /pubmed/37655108 http://dx.doi.org/10.3389/fonc.2023.1192946 Text en Copyright © 2023 Chao, Tsai, Liu, Lien, Lin, Feng, Chen, Lai, Hsu, Lynn, Huang and Tseng https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Chao, Ta-Chung Tsai, Yi-Fang Liu, Chun-Yu Lien, Pei-Ju Lin, Yen-Shu Feng, Chin-Jung Chen, Yen-Jen Lai, Jiun-I. Hsu, Chih-Yi Lynn, Jiun Jen Huang, Chi-Cheng Tseng, Ling-Ming Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title | Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title_full | Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title_fullStr | Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title_full_unstemmed | Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title_short | Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
title_sort | prevalence of pik3ca mutations in taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466395/ https://www.ncbi.nlm.nih.gov/pubmed/37655108 http://dx.doi.org/10.3389/fonc.2023.1192946 |
work_keys_str_mv | AT chaotachung prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT tsaiyifang prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT liuchunyu prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT lienpeiju prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT linyenshu prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT fengchinjung prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT chenyenjen prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT laijiuni prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT hsuchihyi prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT lynnjiunjen prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT huangchicheng prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis AT tsenglingming prevalenceofpik3camutationsintaiwanesepatientswithbreastcanceraretrospectivenextgenerationsequencingdatabaseanalysis |