Gene: STK11

Alternate names for this Gene: LKB1|PJS|hLKB1

Gene Summary: This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: serine/threonine kinase 11

Type of Gene: protein-coding

rs1057520017 in STK11 gene and Adenocarcinoma of lung (disorder) PMID 17676035 2007 LKB1 modulates lung cancer differentiation and metastasis.

rs72977586 in STK11 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs72977586 in STK11 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs72977586 in STK11 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs121913315 in STK11 gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1131690916 in STK11 gene and Neoplastic Syndromes, Hereditary PMID 23415580 2013 Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

PMID 19892943 2009 Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation.

PMID 11389158 2001 Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

PMID 16707622 2006 Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

PMID 9908348 1992 Morphology-dependent resonances in a large dielectric sphere: An asymptotic calculation using local coordinates.

PMID 23056405 2012 Predicting the functional effect of amino acid substitutions and indels.

PMID 24652667 2014 STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

PMID 19908348 2009 Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

PMID 18687677 2008 SIRT1 modulation of the acetylation status, cytosolic localization, and activity of LKB1. Possible role in AMP-activated protein kinase activation.

PMID 10408777 1999 Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

PMID 16287113 2005 High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

PMID 17026623 2006 An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

PMID 9850045 1998 Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

PMID 15188174 2004 Relative frequency and morphology of cancers in STK11 mutation carriers.

PMID 21118512 2010 High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

PMID 12372054 2002 Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

PMID 26607058 2015 Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

PMID 15608654 2005 An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

PMID 17404884 2007 Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

PMID 12112668 2002 Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

PMID 15863673 2005 STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

PMID 23718779 2013 High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

PMID 12865922 2003 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

PMID 16582077 2006 Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 9428765 1998 A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

PMID 9809980 1998 STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

PMID 16110486 2005 Mutations in the human LKB1/STK11 gene.

PMID 24604241 2014 Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.

PMID 12552571 2003 Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

PMID 15121768 2004 Genotype-phenotype correlations in Peutz-Jeghers syndrome.

PMID 17924967 2007 Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

PMID 9760200 1998 Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

PMID 9887330 1999 Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

PMID 26225618 2015 Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.

PMID 19952941 2010 An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome.

PMID 23672593 2013 Insights into the phosphoryl transfer catalyzed by cAMP-dependent protein kinase: an X-ray crystallographic study of complexes with various metals and peptide substrate SP20.

PMID 10623683 2000 Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.

PMID 16407375 2006 Cancer risks in LKB1 germline mutation carriers.

rs1057519858 in STK11 gene and Non-Small Cell Lung Carcinoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs786202134 in STK11 gene and Pancreatic Neoplasm PMID 21189378 2011 mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome.

rs1057520038 in STK11 gene and Peutz-Jeghers Syndrome PMID 21816872 2011 The germline mutation of LKB1 in the Peutz-Jeghers syndrome patients was identified as G215D by analyzing genomic DNA from normal lung tissue specimens.

PMID 26979979 2016 Disease pattern in Danish patients with Peutz-Jeghers syndrome.

PMID 9887330 1999 Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

PMID 10353780 1999 Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

PMID 12552571 2003 Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9425897 1998 Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 21411391 2011 A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 9428765 1998 A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

PMID 15987703 2005 LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.

PMID 12372054 2002 Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 10408777 1999 Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

PMID 9837816 1998 Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

PMID 9760200 1998 Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 11103790 2000 Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome.

PMID 15188174 2004 Relative frequency and morphology of cancers in STK11 mutation carriers.

PMID 16287113 2005 High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

PMID 9934767 1999 Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11.

PMID 23718779 2013 High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

PMID 23515270 2013 Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management.

PMID 17026623 2006 An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

PMID 20559149 2010 Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung adenocarcinomas.

PMID 26607058 2015 Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

PMID 23415580 2013 Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

PMID 9850045 1998 Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

PMID 14976552 2004 LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1.

PMID 23240097 2013 Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance.

PMID 14517248 2003 MO25alpha/beta interact with STRADalpha/beta enhancing their ability to bind, activate and localize LKB1 in the cytoplasm.

PMID 25226294 2014 Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age.

PMID 19892943 2009 Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation.

PMID 16582077 2006 Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

PMID 12865922 2003 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 20435009 2010 Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.

PMID 21189378 2011 mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome.

PMID 15863673 2005 STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

PMID 9809980 1998 STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

PMID 17319781 2007 STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia.

PMID 17404884 2007 Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

PMID 15121768 2004 Genotype-phenotype correlations in Peutz-Jeghers syndrome.

PMID 26225618 2015 Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.

PMID 28231849 2017 A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.

PMID 16733653 2006 Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.

PMID 11389158 2001 Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

PMID 24652667 2014 STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

PMID 16110486 2005 Mutations in the human LKB1/STK11 gene.

PMID 22543132 2012 [Mutation analysis of STK11 gene coding region for 20 Chinese patients with Peutz-Jeghers syndrome].

PMID 28185117 2017 A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

PMID 22942091 2012 Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

PMID 20393878 2010 Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome.

PMID 10441497 1999 Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients.

PMID 24604241 2014 Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.

PMID 17924967 2007 Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

PMID 9399902 1997 Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

PMID 19727776 2010 Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.

PMID 12552571 2003 Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients.

PMID 10874301 2000 Genetic heterogeneity in Peutz-Jeghers syndrome.

PMID 16407375 2006 Cancer risks in LKB1 germline mutation carriers.

PMID 21118512 2010 High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

rs72977586 in STK11 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1057520039 in STK11 gene and Squamous cell carcinoma of lung PMID 17676035 2007 LKB1 modulates lung cancer differentiation and metastasis.

rs137853078 in STK11 gene and Testicular Germ Cell Tumor PMID 9605748 1998 Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.

PMID 9887330 1999 Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.

rs72977586 in STK11 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs121913315 in STK11 gene and melanoma PMID 10208439 1999 Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.