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Molecular Analysis of PIK3CA in Metastatic Hormone Receptor-Positive Breast Cancer in Chile: Clinical and Pathological Insights

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dc.contributor.authorAraya, Carla
dc.contributor.authorMino, Bárbara
dc.contributor.authorLe Cerf, Patricio
dc.contributor.authorGaete, Fancy
dc.contributor.authorArmisen, Ricardo
dc.contributor.authorCarvajal, Daniel
dc.date.accessioned2024-11-20T19:20:48Z
dc.date.available2024-11-20T19:20:48Z
dc.date.issued2024
dc.description.abstractBreast cancer is the most common cancer among women and a leading cause of cancerrelated deaths. PIK3CA gene mutations, which are often present in advanced HR+ breast cancer, can be targeted by alpelisib. However, data on PIK3CA mutations in Chile are limited. Here, we aim to assess the mutational status of PIK3CA in metastatic breast cancer tissues from Chilean patients and describe their clinicopathological characteristics and survival outcomes. We analyzed 102 formalinfixed, paraffin-embedded metastatic breast cancer samples from 96 patients diagnosed at three Chilean hospitals between 2007 and 2023. PIK3CA mutations were identified using targeted sequencing, and clinicopathological data were collected. We evaluated associations between mutational status, clinicopathological features, and survival. The median age at diagnosis was 56 years. The most common metastatic sites were liver (29.4%), bone (17.6%), and lung/pleura (16.7%). Most patients were HR+ HER2− (83.3%), with 57.3% showing HER2-low status. PIK3CA mutations were present in 40.6% of patients, mainly in exons 7, 9, and 20. No significant associations were found between PIK3CA mutations and clinicopathological characteristics or survival. Our study reveals a high frequency of PIK3CA mutations in HR+ metastatic breast cancer, consistent with global data. The majority of mutations are targetable with alpelisib. The proportion of HER2-low status patients suggests potential benefits from novel HER2-targeted therapies. These findings highlight the need for routine molecular diagnostics in Chile to improve personalized treatment and address economic and access challenges.
dc.description.versionVersión Publicada
dc.identifier.citationAraya, C.; Mino, B.; Le Cerf, P.; Gaete, F.; Armisen, R.; Carvajal-Hausdorf, D.E. Molecular Analysis of PIK3CA in Metastatic Hormone Receptor-Positive Breast Cancer in Chile: Clinical and Pathological Insights. Int. J. Mol. Sci. 2024, 25, 12246. https://doi.org/ 10.3390/ijms252212246
dc.identifier.doihttps://doi.org/ 10.3390/ijms252212246
dc.identifier.urihttps://hdl.handle.net/11447/9427
dc.language.isoen
dc.subjectmetastatic hormone receptor-positive breast cancer
dc.subjectPIK3CA mutations
dc.subjectHER2-low
dc.titleMolecular Analysis of PIK3CA in Metastatic Hormone Receptor-Positive Breast Cancer in Chile: Clinical and Pathological Insights
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceInternational Journal of Molecular Sciences
dspace.entity.typePublication

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