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PTPN11 V497L
GenePTPN11
Variantmissense
Amino Acid ChangeV497L
Transcript ID (GRCh37/hg19)ENST00000351677
Codon497
Exon13
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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PTPN11
Variants
PTPN11 V497L
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The PTPN11gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase. SHP-2 is essential for activation of the RAS/MAPK signaling cascade. Most mutations are gain-of-function and result in prolonged ligand-dependent activation of the RAS/MAPK cascade. Germ-line PTPN11 mutations cause Noonan syndrome, a developmental disorder characterized by an increased risk of malignancies. Activating somatic mutations in PTPN11 have been documented in certain hematologic malignancies but they are infrequent in solid tumors. About 3% of all lung cancers harbor somatic mutations in PTPN11 gene but their prognostic and therapeutic significance remains to be fully elucidated. The PTPN11 V497L variant identified in this case has not been characterized in the literature and therefore its effect on protein function is unknown. This variant is best classified as a variant of uncertain significance. The utility of SHP2 inhibitors continues to be explored in some preclinical studies.

Last updated: 2018-06-13 18:53:22 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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