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Interpretation 97
Tier 3
APC
Variants
APC E1317Q
APC codon(s) 1307 frameshift
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Adenocarcinoma
Interpretation

APC mutations have been reported in lung squamous cell carcinoma and small-cell lung carcinoma, but rarely in lung adenocarcinoma. However, variants in the APC gene have not been well characterized in lung adenocarcinoma and their clinical significance is unclear. According to ClinVar, this particular variant is a likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/829/).

Citations
  1. Greulich, H. The Genomics of Lung Adenocarcinoma Opportunities for Targeted Therapies. Genes & cancer 1.12 (2010): 1200-1210.
  2. ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/829/).
Last updated: 2019-02-22 18:05:35 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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