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ERBB2 exon(s) 20 insertion
GeneERBB2
Variantinsertion
Transcript ID (GRCh37/hg19)ENST00000269571
Exon20
Genomic Coordinates (GRCh37/hg19)17:37880979-37881164
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
AdenosarcomaLung
See All Pertinent Negatives

Interpretations

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Tier 2
ERBB2
Variants
ERBB2 exon(s) 20 insertion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 exon 20 insertions occur within exon 20, which encodes part of the kinase domain. These mutations occur with a frequency of approximately 2--4% of all NSCLC. Overall, in-frame ERRB2 insertions in exon 20 have been reported in approximately 6% of cases of lung adenocarcinoma which are negative for EGFR, KRAS, ALK alterations and these variants are more frequent in patients who were never-smokers. Mutations in ERRB2 do not have an independent prognostic value in lung adenocarcinoma, according to a recent study. In vitro studies have shown that this specific variant is associated with constitutive kinase activation and is associated with sensitivity to some ERBB2 inhibitors and therefore, it may represent a targetable mutation in some clinical settings. Please refer to clinicaltrials.gov for additional information. Recommend correlation with other clinical and laboratory findings.

Last updated: 2018-06-14 19:38:36 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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