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Interpretation 2325
Tier 2
STK11
Variants
STK11 codon(s) 60-1 deletion
Primary Sites
Skin
Tumor Types
Squamous Cell Carcinoma
Interpretation

The STK11 is a tumor suppressor gene located on chromosome 19p13.3. The encoded protein has serine--threonine kinase activity. Functionally, STK11 regulates cellular energy metabolism and cell polarity by activating AMP-activated protein kinase (AMPK) and other members of the AMPK family. Germline mutations in the STK11 gene are responsible for Peutz--Jeghers syndrome, an autosomal dominant disorder with variable clinical phenotype and increased risk of some cancers. Somatic mutations of STK11 gene are reported in several tumors including ~5% of cutaneous squamous cell carcinomas. According to Clinvar, this variant (c.597+1G>A) is considered to be oncogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/265451/). This variant has been described as a germline variant that results in exon 4 skipping in a family with Peutz--Jeghers syndrome. Clinical correlation is recommended.

Citations
  1. Sanchez-Cespedes M A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. Oncogene 2007;26(57):7825-32
  2. Schabath MB, et al. Differential association of STK11 and TP53 with KRAS mutation-associated gene expression, proliferation and immune surveillance in lung adenocarcinoma. Oncogene 2015
  3. ClinVar. https://www.ncbi.nlm.nih.gov/clinvar/variation/265451/
  4. Pickering CR, et al. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res 2014;20(24):6582-92
  5. Papp J, et al. High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. BMC Med Genet 2010;11():169
Last updated: 2019-01-22 19:24:25 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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