|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine.
|
15987703 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The risk of intussusception in PJS is not influenced by STK11 mutation status.
|
16882735 |
2006 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germ line mutations of the LKB1 gene cause the autosomal dominant Peutz-Jeghers syndrome (PJS), and PJS has also been associated with an increased risk of developing cancers, suggesting LKB1 may act as a tumor suppressor in PJS.
|
20616618 |
2010 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history.
|
18495044 |
2008 |
|
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 |
Germline mutations of the STK11 gene lead to emergence of hamartomas in the gastrointestinal tract of patients with Peutz-Jeghers syndrome, who bear an increased risk of malignancies of the gastrointestinal tract, genital tract, and other organs.
|
10429655 |
1999 |
|
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 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
To assess cancer risks in a large homogenous cohort of patients with Peutz-Jeghers syndrome, carrying, in large majority, an identified STK11/LKB1 mutation.
|
23415580 |
2013 |
|
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 |
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 |
Here, we report a detailed analysis of a case of a cervical tumor in a PJS patient showing a large genomic deletion in exon 1 of STK11 without human papillomavirus infection.
|
24490603 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, no germline STRAD mutations were found in 10 patients with PJS and family members without LKB1 germline mutation.
|
16189157 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
|
15863673 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.
|
16733653 |
2006 |
|
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 |
UNIPROT |
In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history.
|
12372054 |
2002 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These syndromes arise as a result of germline mutations in the BRCA2, pl6 (familial atypical multiple-mole melanoma), mismatch repair (hereditary nonpolyposis colorectal cancer), and STK11 (Peutz-Jeghers syndrome) genes.
|
11561603 |
2002 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in LKB1 (STK11) are associated with a subset of PJS.
|
14518069 |
2003 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
STK11 mutation analysis should be restricted to individuals who meet PJS criteria or their close relatives.
|
15121768 |
2004 |
|
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 |
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 |
We estimate the chance of trilateral retinoblastoma and PJS occurring in the same individual at approximately 1 in 134 billion live births, and we discuss the possibility that this case could be explained by a putative modifier of pRB action that is associated with the LKB1/STK11 pathway.
|
23463749 |
2013 |