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SMO P641A
GeneSMO
Variantmissense
Amino Acid ChangeP641A
Transcript ID (GRCh37/hg19)ENST00000249373
Codon641
Exon11
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 3
SMO
Variants
SMO P641A
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Adenocarcinoma
Interpretation

Smoothened (SMO) is a co-receptor involved in the Hedgehog (Hh) signaling. Constitutive or aberrant activation of the Hh pathway leading to tumorigenesis is seen in many cancers with SMO activating mutations identified in basal cell carcinoma and medulloblastoma. Several Hh signaling pathway inhibitors, such as vismodegib and sonidegib, have been recently developed for cancer treatment. Germline or somatic SMO mutations have not been previously characterized in NSCLC; however, in a recent report a germline SMO P641A mutation in a patient with refractory NSCLC responded to vismodegib therapy for several months. The functional effect of SMO V404M is conflicting as it demonstrated activity similar to the normal protein in culture in one study, but resulted in near complete loss of Hh pathway signaling in another study, and therefore, its effect on SMO protein function is unknown. Clinical correlation is recommended.

Last updated: 2019-07-15 15:41:20 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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