|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The tumor suppressor serine-threonine kinase LKB1 is mutated in Peutz-Jeghers syndrome and in a spectrum of epithelial cancers whose etiology suggests a cooperation with environmental insults.
|
25329316 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutation of the LKB1 gene (also known as STK11) is regarded as a cause of Peutz-Jeghers syndrome.
|
17711506 |
2007 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To establish whether germline mutations of STK11/LKB1 account for familial breast cancer, 22 patients from 14 breast cancer families with LOH on 19p and one PJS family were selected for screening for germline mutations of LKB1/STK11.
|
10852375 |
2000 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study presents the molecular characterization and cancer occurrence of a large cohort of PJS patients, increases the mutational spectrum of LKB1/STK11 allelic variants worldwide, and provides a new insight useful for clinical diagnosis and genetic counseling of PJS families.
|
17404884 |
2007 |
|
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 |
Inactivating mutations of the CHEK2 and STK11 genes are responsible for Li-Fraumeni and Peutz-Jeghers syndrome, respectively, both autosomal dominant syndromes associated with an increased risk of breast cancer.
|
20722467 |
2010 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.
|
10353780 |
1999 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Although a tentative molecular classification of PJS patients was recently made according to their LKB1 mutation status, it is difficult to clarify the genotype-phenotype relationship because of the rarity and genetic heterogeneity of this disease.
|
18600394 |
2008 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PJS is a rare hereditary disease, which may be associated with the development of poor outcome adenocarcinomas and LKB1-gene mutations.
|
24054548 |
2013 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cancer risks in LKB1 germline mutation carriers.
|
16407375 |
2006 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1.
|
11741830 |
2001 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigate the mechanism and function of LKB1, a Ser/Thr kinase mutated in Peutz-Jegher syndrome (PJS).
|
11430832 |
2001 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
|
16287113 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Peutz-Jeghers syndrome: a systematic review and recommendations for management.
|
20581245 |
2010 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Relative frequency and morphology of cancers in STK11 mutation carriers.
|
15188174 |
2004 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
LKB1: a sweet side to Peutz-Jeghers syndrome?
|
16530014 |
2006 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
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 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline LKB1 mutations cause Peutz-Jeghers syndrome, a hereditary disorder that predisposes to gastrointestinal hamartomatous polyposis and several types of malignant tumors.
|
17384680 |
2007 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The protein kinase LKB1 is a crucial regulator of cell growth/proliferation and cell polarity and is the causative gene in the cancer-predisposing disease Peutz-Jeghers syndrome (PJS).
|
20110331 |
2010 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the human LKB1/STK11 gene.
|
16110486 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is dominantly inherited.
|
11389158 |
2001 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PJS with germline mutations in LKB1/STK11 are at a very high relative and absolute risk of multiple gastrointestinal and nongastrointestinal cancers.
|
12865922 |
2003 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To understand the molecular pathogenesis of PJS phenotypes, we used microarrays to analyze gene expression profiles in proliferating HeLa cells transduced with lentiviral vectors expressing wild type or mutant LKB1 proteins.
|
15731909 |
2005 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LKB1 was discovered as a tumour suppressor mutated in Peutz-Jeghers syndrome, and is a gene involved in cell polarity as well as an upstream protein kinase for members of the AMP-activated protein kinase family.
|
18774945 |
2008 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |