Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The substitutions of single amino acids in highly conserved regions of the STK11 protein are associated with Peutz-Jeghers syndrome (PJS), which is an autosomal dominant inherited disorder.
|
31712642 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome and Sanger sequencing identified somatic mutations in STK11 (a causative gene of Peutz-Jegher syndrome; n=3), CTNNB1 (n=2), and APC (a gene of familial adenomatous polyposis; n=1) in ICPNs, while those alterations were exceptional in papillary and nonpapillary GBCs.
|
30807303 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk.
|
31072341 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report showing ER positivity in breast cancer in carriers of STK11 variants and needs confirmation in a larger pooled cohort of PJS associated breast cancers.
|
30689838 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several pathogenic mutations of LKB1 causing Peutz-Jeghers syndrome and also cancers in breast, gastric, pancreas, and colon have been reported.
|
29447078 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
STK11 mutations (both frameshift) were identified in 2 of 7 cases (29%); one of these was in a patient with a known history of Peutz-Jeghers syndrome.
|
30134342 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The combination of direct sequencing and multiple ligation-dependent probe amplification (MLPA) has resulted in an 80% detection rate of serine/threonine kinase 11 (STK11) gene mutations in Peutz-Jeghers syndrome (PJS); however, this rate varies in different ethnicities.
|
30528796 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age.
|
29948449 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although the main clinical features of pediatric PJS were similar to those of PJS cases in adults, a high frequency of STK11 de novo mutations were encountered in our population of patients with PJS.
|
30334930 |
2019 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS.
|
28900777 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the STK11 gene (encoding LKB1) are the cause of the Peutz-Jeghers syndrome, which is characterized by benign polyps in the intestine and a higher risk for the patients to develop intestinal and extraintestinal tumors.
|
29540834 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results identify LKB1-mediated inflammation as a tissue-extrinsic regulator of intestinal polyposis in PJS, suggesting possible therapeutic approaches by targeting deregulated inflammation in this disease.
|
30049881 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS.
|
29685139 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study suggests that some other genetic disorders may cause PJS besides <i>LKB1/STK11</i> gene mutation.
|
30148152 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is a rare hereditary disease caused by mutations in serine threonine kinase 11 (<i>STK11</i>) and characterized by an increased risk of developing cancer.
|
29399144 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, peripheral blood genomic DNA samples from a Chinese PJS family with a high cancer risk were examined for STK11 mutations using Sanger sequencing and MLPA analysis.
|
29720104 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis showed a heterozygous deletion of the whole STK11 gene confirming PJS.
|
30447145 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous work has implicated LKB1 - the causative gene in the autosomal dominant, cancer pre-disposing disease called Peutz-Jeghers Syndrome (PJS), and its downstream target AMPK, in the establishment of germline stem cell (GSC) quiescence during the dauer stage.
|
29907081 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece.
|
29310834 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The liver kinase B1 (LKB1) gene is a tumor suppressor associated with the hereditary Peutz-Jeghers syndrome and frequently mutated in non-small cell lung cancer and in cervical cancer.
|
30222967 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome.
|
28869103 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that IL-11-mediated induction of JAK/STAT3 is critical in gastrointestinal tumorigenesis following Lkb1 mutations and suggest that targeting this pathway has therapeutic potential in Peutz-Jeghers syndrome.
|
29202476 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Adult patients with a proven LKB1 mutation and who were suitable for everolimus treatment were included in two different PJS cohorts: (a) patients with unresectable malignancies and (b) patients with high-risk polyps.
|
29371475 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PJS probands with STK11 mutation were included in the function analysis.
|
30092773 |
2018 |
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.
|
28986664 |
2017 |