{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:51:33Z","timestamp":1791496293708,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T00:00:00Z","timestamp":1669593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000043","name":"American Association for Cancer Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000043","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Oncology"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Epidermal growth factor receptor (EGFR) exon 20 insertion mutations (ex20ins) account for \u2264\u200912% of all EGFR\u2010mutant nonsmall cell lung cancers. We analysed real\u2010world datasets to determine the frequency of ex20ins variants, and the ability of polymerase chain reaction (PCR) and next\u2010generation sequencing (NGS) to identify them. Three real\u2010world United States NGS databases were used: GENIE, FoundationInsights, and GuardantINFORM. Mutation profiles consistent with in\u2010frame EGFR ex20ins were summarized. GENIE, FoundationInsights, and GuardantINFORM datasets identified 180, 627, and 627 patients with EGFR ex20ins respectively. The most frequent insertion region of exon 20 was the near loop (~\u200970%), followed by the far loop (~\u200930%) and the helical (~\u20093\u20136%) regions. GENIE, FoundationInsights, and GuardantINFORM datasets identified 41, 102, and 96 unique variants respectively. An analysis of variants projected that ~\u200950% of EGFR ex20ins identified by NGS would have been missed by PCR\u2010based assays. Given the breadth of EGFR ex20ins identified in the real\u2010world US datasets, the ability of PCR to identify these mutations is limited. NGS platforms are more appropriate to identify patients likely to benefit from EGFR ex20ins\u2010targeted therapies.<\/jats:p>","DOI":"10.1002\/1878-0261.13327","type":"journal-article","created":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T13:14:03Z","timestamp":1666358043000},"page":"230-237","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Frequency, underdiagnosis, and heterogeneity of epidermal growth factor receptor exon 20 insertion mutations using real\u2010world genomic datasets"],"prefix":"10.1002","volume":"17","author":[{"given":"Santiago","family":"Viteri","sequence":"first","affiliation":[{"name":"UOMI Cancer Center Cl\u00ednica Mi Tres Torres  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Minchom","sequence":"additional","affiliation":[{"name":"Drug Development Unit Royal Marsden\/Institute of Cancer Research  Sutton 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