|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
STK 11 testing can confirm those at risk of PJS, who require lifelong surveillance, and possibly release those with a simple dermatosis, such as LHS, from invasive and thus potentially harmful surveillance.
|
26768676 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate the spectrum of STK11 gene mutations using multiplex ligation-dependent probe amplification (MLPA) assay in combination with direct sequencing in Chinese children with PJS.
|
27467201 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.
|
29245219 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.
|
28231849 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively.
|
28185117 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.
|
29141581 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Liver kinase B1 (LKB1) is mutationally inactivated in Peutz-Jeghers syndrome and in a variety of cancers including human papillomavirus (HPV)-caused cervical cancer.
|
27546620 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.
|
28185117 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, the present work highlighting the structural dynamics of LKB1 by the binding of allosteric co-activators is expected to provide a basic understanding on drug design specific to PJS syndrome.
|
27160967 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Liver serine/threonine kinase B1 (LKB1) is a tumor suppressor associated with the pathogenesis of Peutz-Jeghers syndrome.
|
29022902 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report.
|
28231849 |
2017 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of clinical overlap in individuals with PCOS and PJS, even though some individuals with PCOS show a polymorphism in STK11, which is the gene mutated in PJS.
|
26147831 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the STK11 gene further revealed a novel frameshift mutation (c.64_65het_delAT) in exon 1 in this PJS infant.
|
27004004 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome.
|
26877140 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Liver kinase B1 (LKB1) functions as a tumor suppressor encoded by STK11, a gene that mutated in Peutz-Jeghers syndrome and in sporadic cancers.
|
27705915 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation.
|
27821076 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Methylisoindigo preferentially kills cancer stem cells by interfering cell metabolism via inhibition of LKB1 and activation of AMPK in PDACs.
|
26887594 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene.
|
27894106 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disease pattern in Danish patients with Peutz-Jeghers syndrome.
|
26979979 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of LKB1 is the leading cause of familial PJS.
|
27721366 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, we present two elderly patients with thyroid carcinoma harboring STK11 mutation without clinical manifestation of PJS.
|
26662608 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This report details the first four reported cases of somatic mosaicism for STK11 associated with PJS.
|
26386697 |
2016 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS.
|
26607058 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS.
|
25487640 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We optimized and validated an IHC assay for LKB1 (clone Ley37D/G6) using a panel of lung cancer cell lines and tumors with known LKB1 mutations, including 2 patients with Peutz-Jeghers syndrome (PJS) who developed lung adenocarcinoma.
|
25737507 |
2015 |