|
Hamartoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease caused by mutations in the tumor suppressor gene, STK11, which is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing both gastrointestinal and extraintestinal malignancies.
|
28986664 |
2017 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1).
|
26169059 |
2015 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inactivation of transforming growth factor-β/bone morphogenetic protein signalling and complete loss of LKB1 might be involved in dysplastic transformation of gastrointestinal hamartomas specifically.
|
23430953 |
2013 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LKB1 is a serine-threonine kinase, mutation of which can lead to the development of multiple benign intestinal hamartomas (Peutz-Jeghers syndrome).
|
21813469 |
2012 |
|
Hamartoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Three tumor suppressors, PTEN (phosphatases and tensin homolog), tuberous sclerosis complex TSC1/TSC2, and LKB1, are negative regulators of PI3K/mTORC1 signaling; disease-related inactivation of these tumor suppressors results in the development of PTEN-associated hamartoma syndromes, TSC and PJS, respectively.
|
19177005 |
2009 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemical analysis revealed an elevated expression of cyclooxygenase-2, and almost complete loss of LKB1 expression in the polyps, suggesting that a biallelic inactivation of the LKB1 gene was responsible for the hamartoma formation.
|
18600394 |
2008 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases.
|
15287029 |
2004 |
|
Hamartoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
How mTOR dysregulation after inactivation of LKB1 or TSC1/2 contributes to hamartoma development is not known.
|
15261137 |
2004 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that STK11 is a tumor suppressor gene regulating the development of hamartomas, and that somatic mutation of p53 subsequently promotes gastrointestinal cancer at a later stage in PJS.
|
12051537 |
2002 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In all cases, the polyps arising in the Lkb1+/- mice were found to be hamartomas that were histologically indistinguishable from polyps resected from PJS patients, indicating that Lkb1+/- mice model human PJS polyposis.
|
12218179 |
2002 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mouse homologue of CDX2 has been shown to give rise to a phenotype which includes hamartomatous-like polyps in the colon and is therefore a good candidate for JPS and PJS cases which are not accounted for by the SMAD4 and LKB1 genes.
|
11355940 |
2001 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Previous reports suggest that inactivation of the STK11/LKB1, a tumor-suppressor gene responsible for Peutz-Jeghers syndrome (PJS), plays a role in the pathogenesis of gastrointestinal hamartomas as well as several cancers, including pancreatic adenocarcinoma.
|
11733352 |
2001 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LKB1/STK11 gene on chromosome 19p account for most cases of Peutz-Jeghers syndrome (PJS), in which intestinal hamartomas are associated with elevated risks of several cancer types, including breast cancer.
|
10852375 |
2000 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of the LKB1 gene cause Peutz-Jeghers syndrome (PJS) characterized by mucocutaneous pigmentation, predisposition to benign hamartomas of the gastrointestinal tract and also to several types of tumors.
|
10644993 |
2000 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the LKB1 (STK11) gene (chromosome sub-band 19p13.3) cause characteristic hamartomas and pigmentation to develop in patients with Peutz-Jeghers syndrome.
|
10389980 |
1999 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation.
|
10353780 |
1999 |
|
Hamartoma
|
0.100 |
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 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peutz-Jeghers syndrome (PJS).
|
10201537 |
1999 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Given the rare involvement of LKB1 in sporadic cancers, these data also suggest that the indirect effect on cancer risk (or 'bystander effect') proposed for hamartomas in juvenile polyposis does not apply to carcinomas in PJS.
|
10398133 |
1999 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
With the identification of at least one of the genes involved (LKB1/STK11), attempts can be made to unravel the molecular events responsible for this hamartoma-adenoma-carcinoma sequence.
|
10398131 |
1999 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of hamartomas and adenocarcinomas from patients with PJS identified loss of heterozygosity (LOH) of 19p markers near STK11 in 70% of tumors.
|
9850045 |
1998 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes.
|
9708796 |
1998 |