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STK11
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STK11 codon(s) 60-1 deletion
GeneSTK11
Variantdeletion
DNA Change (Coding Nucleotide)180delC
Transcript ID (GRCh37/hg19)ENST00000326873
Codon60-1
Exon1
Genomic Coordinates (GRCh37/hg19)19:1207090-1206915
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
STK11
Variants
STK11 codon(s) 60-1 deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung 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 lung cancers. Studies have demonstrated STK11 inactivation is a common event and may be involved in the development of sporadic lung adenocarcinoma. Inactivation mutations of STK11 are found in 30% of lung cancer cell lines and in 15% of primary lung adenocarcinomas. Clinical relevance of these alterations and impact on disease progression and patient survival needs to be fully elucidated.

Last updated: 2020-07-24 14:52:46 UTC
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Tier 2
STK11
Variants
STK11 codon(s) 60-1 deletion
Primary Sites
Peritoneum
Tumor Types
Unknown
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 inactivating mutations of STK11 gene are reported in several tumors. Clinical relevance of these alterations and impact on disease progression and patient survival needs to be fully elucidated.

Last updated: 2019-01-22 18:51:26 UTC
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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.

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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