Condition: 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.