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ERBB2 V842I
GeneERBB2
Variantmissense
Amino Acid ChangeV842I
DNA Change (Coding Nucleotide)2524G>A
Transcript ID (GRCh37/hg19)ENST00000269571
Codon842
Exon21
Genomic Coordinates (GRCh37/hg19)17:37881332-37881332
COSMIC ID14065
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
ERBB2
Variants
ERBB2 V842I
Primary Sites
Breast
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 V842I is a mutation identified in breast cancer patients, located within the kinase domain, which increases kinase activity, in vitro, and increases the number of colonies formed in soft agar. Cells with this mutation display an invasive morphology, but tumor xenografts formed from these cells do not grow more rapidly than those with wild-type HER2. When assessing sensitization to HER2-targeted therapies in vitro, cells with this mutation are highly sensitive to neratinib but less sensitive to lapatinib, in a manner similar to wild-type HER2.

Last updated: 2016-06-07 02:14:02 UTC
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Tier 2
ERBB2
Variants
ERBB2 V842I
Primary Sites
Colon
Rectum
Pancreas
Tumor Types
Adenocarcinoma
Interpretation

The ERBB2 p.V842I mutation has been previously reported in several cancer types and has been reported to be an activating mutation. The potential for these mutations to be used for selection of patients to targeted therapies continues to be evaluated.

Last updated: 2016-02-22 22:23:50 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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