{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T03:26:30Z","timestamp":1767065190129,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T00:00:00Z","timestamp":1689811200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Roche Farmac\u00eautica Quimica Lda"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JMP"],"abstract":"<jats:p>Foundation Medicine\u00ae testing is a next-generation sequence (NGS)-based platform that allows clinicians to obtain the comprehensive genomic profiling (CGP) of several cancers. By using NGS approaches, relevant genomic alterations can be identified in a short timeframe, providing guidance to diagnostic and therapeutic decisions. This study reports the implementation of three commercially available Foundation Medicine\u00ae tests in a Portuguese institution and explores the genomic alterations identified. Data obtained from 72 patients tested with Foundation Medicine\u00ae between July 2017 and December 2020 were analysed retrospectively. A total of 290 gene alterations were identified, and TP53 was the gene most frequently altered. Among the 67 successfully profiled samples, 37.3% presented a potentially actionable variation. Breast carcinoma represented the most frequent tumour-carrying variation that can be targeted using currently approved drugs. A limited number of potentially actionable variants using approved drugs was found in this study; however, the genomic information provided by Foundation Medicine\u00ae may help clinicians in directing cancer patients into clinical trials or to off-label treatments.<\/jats:p>","DOI":"10.3390\/jmp4030014","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T05:42:01Z","timestamp":1689831721000},"page":"156-165","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Real-World Study Reporting the Use of Foundation Medicine\u00ae Testing in Portugal"],"prefix":"10.3390","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2987-736X","authenticated-orcid":false,"given":"Regina","family":"Pinto","sequence":"first","affiliation":[{"name":"Institute of Molecular Pathology and Immunology, Porto University, Alameda Prof Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1006-6946","authenticated-orcid":false,"given":"Fernando","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology, Porto University, Alameda Prof Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"CINTESIS (Center for Health Technology and Services Research) @RISE (Health Research Network), Alameda Prof Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,20]]},"reference":[{"key":"ref_1","first-page":"447","article-title":"Next-generation sequencing for the general cancer patient","volume":"17","author":"Avila","year":"2019","journal-title":"Clin. 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