|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) caused by germline STK11 variants is a rare autosomal dominant cancer predisposition syndrome characterized by multiple gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation and a high inherited risk of developing GI, breast and other cancers.
|
30689838 |
2019 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder resulting from mutations in serine/threonine kinase 11 (STK11) and characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation, and an increased risk for specific cancers.
|
24652667 |
2014 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS), caused by germ-line mutations in LKB1, is characterized by the development of hamartomatous polyps in the gastrointestinal (GI) tract.
|
23337932 |
2013 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We sought to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4, ENG, and STK11 in individuals with ≥5 gastrointestinal polyps, including at least 1 hamartomatous or hyperplastic/serrated polyp.
|
23399955 |
2013 |
|
Hamartomatous polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
LKB1 encodes a serine/threonine protein kinase that is defective in patients with Peutz-Jeghers syndrome (PJS), a hereditary disorder characterized by gastrointestinal hamartomatous polyposis and an increased risk of cancer development.
|
18600394 |
2008 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LKB1 gene are responsible for the Peutz-Jeghers Syndrome (PJS) characterized by a predisposition to hamartomatous polyps and hyperpigmentation of the buccal mucosa.
|
17921699 |
2007 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation.
|
16616343 |
2006 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the LKB1 gene are known to cause Peutz-Jeghers syndrome, which is an autosomal dominant disorder characterised by hamartomatous polyposis and mucocutaneous pigmentation.
|
16407375 |
2006 |
|
Hamartomatous polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
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 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome.
|
16287113 |
2005 |
|
Hamartomatous polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in the serine-threonine kinase gene STK11 (LKB1) cause Peutz-Jeghers syndrome (PJS), a rare autosomal dominantly inherited disease, characterized by hamartomatous polyposis and mucocutaneous pigmentation.
|
15287029 |
2004 |
|
Hamartomatous polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome.
|
14623934 |
2003 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of LKB1/Peutz-Jeghers syndrome gene predispose carriers to hamartomatous polyposis of the gastrointestinal tract as well as to cancer of different organ systems.
|
10079245 |
1999 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Four hamartomatous polyps (three from JP and one from PJS) showed seven, new mutations and one common APC variant (codon 486), whereas no hyperplastic polyps demonstrated mutation.
|
10502830 |
1999 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Despite the hamartomatous polyps and increased cancer risk associated with this syndrome, somatic alterations in LKB1/STK11 have not been identified in human tumours.
|
10208439 |
1999 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms.
|
9887330 |
1999 |
|
Hamartomatous polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In DNA isolated from microdissected hamartomatous polyps of the index patient, exon 1 of the STK11 gene could not be amplified suggesting that both alleles of STK11 exon 1 were lost in the hamartomatous polyps.
|
9934767 |
1999 |
|
Hamartomatous polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hamartomatous polyposis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|