PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer
Abstract We aim to elucidate the prognostic value of PIK3CA mutations and copy number (CN) gain (PIK3CA-mut/gain) in hormone receptor-positive and HER2-negative (HR + /HER2−) breast cancer (BC). We analyzed primary HR + /HER2− BC from three publicly available datasets comprising over 2000 samples an...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2022-02-01
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| Series: | npj Breast Cancer |
| Online Access: | https://doi.org/10.1038/s41523-022-00382-5 |
| _version_ | 1797643044179148800 |
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| author | Ilenia Migliaccio Marta Paoli Emanuela Risi Chiara Biagioni Laura Biganzoli Matteo Benelli Luca Malorni |
| author_facet | Ilenia Migliaccio Marta Paoli Emanuela Risi Chiara Biagioni Laura Biganzoli Matteo Benelli Luca Malorni |
| author_sort | Ilenia Migliaccio |
| collection | DOAJ |
| description | Abstract We aim to elucidate the prognostic value of PIK3CA mutations and copy number (CN) gain (PIK3CA-mut/gain) in hormone receptor-positive and HER2-negative (HR + /HER2−) breast cancer (BC). We analyzed primary HR + /HER2− BC from three publicly available datasets comprising over 2000 samples and assessed the associations with tumoral and clinical characteristics and outcome. Clinical benefit (CB) in alpelisib-treated patients from two studies including 46 patients was analyzed. About 8–10% of HR + /HER2− primary BC had PIK3CA-mut/gain. In two of the datasets analyzed, among patients with PIK3CA mutant tumors, those with mut/gain had significantly worse outcome compared to those with CN neutral (PIK3CA-mut/neut) and PIK3CA-mut/gain remained an independent prognostic factor. CB of alpelisib-treated patients with PIK3CA-mut/gain and PIK3CA-mut/neut tumors was comparable. PIK3CA CN might help clarifying the prognostic and predictive role of PIK3CA mutations. Further studies are warranted. |
| first_indexed | 2024-03-11T14:08:58Z |
| format | Article |
| id | doaj.art-30c4d61a455f40e0b372c0a7e9f7fed0 |
| institution | Directory Open Access Journal |
| issn | 2374-4677 |
| language | English |
| last_indexed | 2024-03-11T14:08:58Z |
| publishDate | 2022-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Breast Cancer |
| spelling | doaj.art-30c4d61a455f40e0b372c0a7e9f7fed02023-11-02T00:37:18ZengNature Portfolionpj Breast Cancer2374-46772022-02-018111010.1038/s41523-022-00382-5PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancerIlenia Migliaccio0Marta Paoli1Emanuela Risi2Chiara Biagioni3Laura Biganzoli4Matteo Benelli5Luca Malorni6“Sandro Pitigliani” Translational Research Unit, Hospital of Prato, Azienda USL Toscana CentroBioinformatics Unit, Hospital of Prato, Azienda USL Toscana Centro“Sandro Pitigliani” Department of Medical Oncology, Hospital of Prato, Azienda USL Toscana CentroBioinformatics Unit, Hospital of Prato, Azienda USL Toscana Centro“Sandro Pitigliani” Department of Medical Oncology, Hospital of Prato, Azienda USL Toscana CentroBioinformatics Unit, Hospital of Prato, Azienda USL Toscana Centro“Sandro Pitigliani” Translational Research Unit, Hospital of Prato, Azienda USL Toscana CentroAbstract We aim to elucidate the prognostic value of PIK3CA mutations and copy number (CN) gain (PIK3CA-mut/gain) in hormone receptor-positive and HER2-negative (HR + /HER2−) breast cancer (BC). We analyzed primary HR + /HER2− BC from three publicly available datasets comprising over 2000 samples and assessed the associations with tumoral and clinical characteristics and outcome. Clinical benefit (CB) in alpelisib-treated patients from two studies including 46 patients was analyzed. About 8–10% of HR + /HER2− primary BC had PIK3CA-mut/gain. In two of the datasets analyzed, among patients with PIK3CA mutant tumors, those with mut/gain had significantly worse outcome compared to those with CN neutral (PIK3CA-mut/neut) and PIK3CA-mut/gain remained an independent prognostic factor. CB of alpelisib-treated patients with PIK3CA-mut/gain and PIK3CA-mut/neut tumors was comparable. PIK3CA CN might help clarifying the prognostic and predictive role of PIK3CA mutations. Further studies are warranted.https://doi.org/10.1038/s41523-022-00382-5 |
| spellingShingle | Ilenia Migliaccio Marta Paoli Emanuela Risi Chiara Biagioni Laura Biganzoli Matteo Benelli Luca Malorni PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer npj Breast Cancer |
| title | PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer |
| title_full | PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer |
| title_fullStr | PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer |
| title_full_unstemmed | PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer |
| title_short | PIK3CA co-occurring mutations and copy-number gain in hormone receptor positive and HER2 negative breast cancer |
| title_sort | pik3ca co occurring mutations and copy number gain in hormone receptor positive and her2 negative breast cancer |
| url | https://doi.org/10.1038/s41523-022-00382-5 |
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