|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association of the STK11 gene with Peutz-Jeghers syndrome, lung adenocarcinomas, and medullary thyroid cancer leads to a possible association between this genetic variant and our patient's tumors.
|
25751324 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limited research on PJS has found that truncating mutations of the serine/threonine kinase 11 (STK11) gene may correlate with early symptoms and a greater number of polyps.
|
26225618 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of exons 2-3 of the STK11 gene may prove to be the most recurrent large rearrangement causing PJS.
|
25841653 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome.
|
26225618 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.
|
26430231 |
2015 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.
|
26607058 |
2015 |
|
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 |
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 |
Especially, we identified 2 new germline variants which are represented in all six PJS samples and are independent of STK11 mutation.
|
24154639 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.
|
24652667 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.
|
24652667 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age.
|
25226294 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Abnormal STK11 may increase cancer risk of PJS patients via affecting its target proteins such as P53, AMPK, and PTEN.
|
24604241 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
LKB1 (also known as serine-threonine kinase 11, STK11) is a tumor suppressor, which is mutated or deleted in Peutz-Jeghers syndrome (PJS) and in a variety of cancers.
|
24387336 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LKB1 is mutated in a significant number of Peutz-Jeghers syndrome (PJS) cases and sporadic cancers, and is most frequently mutated in lung adenocarcinomas; however, little is known about how LKB1 is involved in lung cancer progression.
|
24448687 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LKB1 are associated with Peutz-Jeghers syndrome as well as sporadic cervical and lung cancers.
|
25042259 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.
|
24604241 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
LKB1/STK11 is a tumor suppressor gene responsible for Peutz-Jeghers syndrome, an inherited cancer disorder associated with genome instability.
|
23584481 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.
|
24652667 |
2014 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The defect in LKB1 is the primary cause of Peutz-Jeghers syndrome (PJS).
|
24676538 |
2014 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
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 |
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 |
|
Peutz-Jeghers Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Peutz-Jeghers syndrome (PJS) is caused by mutations in the LKB1 gene.
|
23430953 |
2013 |