MET D1228N and D1246N are the Same Resistance Mutation in MET Exon 14 Skipping.

Tsai, Jonathan M; Hata, Aaron N; Lennerz, Jochen K

Tsai, Jonathan M; Hata, Aaron N; Lennerz, Jochen K.

Afiliación

Tsai JM; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts, USA.
Hata AN; Cancer Center, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.
Lennerz JK; Center for Integrated Diagnostics, Department of Pathology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.

Oncologist ; 26(12): e2297-e2301, 2021 12.

Article en En | MEDLINE | ID: mdl-34347347

RESUMEN

Comprehensive genetic profiling using next-generation sequencing technologies has become an integral part of precision oncology. Variant annotation requires translating the DNA findings into protein level predictions. In this article we highlight inconsistencies in variant annotation for the MET D1228N exon 19 resistance mutations. MET D1228N and D1246N represent the same resistance mutation in MET exon 14 skipping alterations annotated on different transcripts. Additional examples of relevant variants annotated on different transcripts emphasize the importance of avoiding erroneous interpretation when realizing precision oncology.

Asunto(s)

Exones; Neoplasias; Proteínas Proto-Oncogénicas c-met/genética; Humanos; Mutación; Neoplasias/genética; Medicina de Precisión

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exones / Proteínas Proto-Oncogénicas c-met / Neoplasias Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Oncologist Asunto de la revista: NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

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