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- Title
MET D1228N and D1246N are the Same Resistance Mutation in MET Exon 14 Skipping.
- Authors
TSAI, JONATHAN M.; HATA, AARON N.; LENNERZ, JOCHEN K.
- Abstract
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.
- Subjects
GENETIC mutation; SEQUENCE analysis; DNA; GENETIC variation; GENOMICS; GENETIC techniques; ONCOLOGY
- Publication
Oncologist, 2021, Vol 26, Issue 12, pe2297
- ISSN
1083-7159
- Publication type
Article
- DOI
10.1002/onco.13924