|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Cyclin-dependent kinase inhibitor 1B (CDKN1B) pathogenic variants lead to multiple endocrine neoplasia type 4 (MEN4) syndrome, in which pituitary adenomas can occur.
|
31658440 |
2019 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4).
|
20530095 |
2010 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
As the CDKN1B (p27) gene causes MEN4 syndrome and it is transcriptionally regulated by the product of the MEN1 gene (menin), we sought to analyze whether p27 influences the phenotype of MEN1-mutated patients.
|
24920291 |
2014 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Here, we review the clinical characteristics of the MEN4 syndrome and the molecular phenotype of the associated p27Kip1 mutations.
|
23652671 |
2013 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.
|
23555276 |
2013 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how it is affected by MENX- or MEN4-associated mutations.
|
23800691 |
2013 |
|
Multiple Endocrine Neoplasia, Type IV
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Eight mutations of CDKN1B in MEN4 patients have been published so far.
|
24819502 |
2014 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although the exact biological mechanism remains to be explored, our findings suggest possible involvement of CDKN1A and CDKN1B variants in the etiology of breast cancer.
|
16804901 |
2006 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
p27/Kip1 mutation found in breast cancer.
|
8625318 |
1996 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.
|
30065701 |
2018 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the determination of the CDKN1B genotype might be a powerful tool for the prognosis of patients with early breast cancer.
|
15627896 |
2005 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis suggests that breast cancer may be associated with CDKN1B gene rs34330 polymorphism, but not rs2066827 polymorphism.
|
24078094 |
2013 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Based on this meta-analysis, we conclude that the cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism might not be a risk factor for breast cancer development.
|
24523023 |
2014 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing).
|
18174243 |
2008 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The 95% confidence intervals for per allele risk estimates excluded a twofold risk, indicating that common CDKN1B polymorphisms do not markedly modify breast cancer risk among BRCA1 or BRCA2 carriers.
|
18543099 |
2009 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pheochromocytoma that develop in rats homozygous for a loss-of-function mutation in p27Kip1 (MENX syndrome) show a clear progression from hyperplasia to tumor, offering the possibility to gain insight into tumor pathobiology.
|
20937862 |
2010 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
However, a recent study links germline mutations in p27Kip1 to multiple endocrine neoplasia syndrome in rats and humans, thus establishing p27Kip1 as a bona fide tumor suppressor gene.
|
17097557 |
2006 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in p27(kip1) are associated with increased susceptibility to multiple endocrine neoplasias (MEN) both in rats and humans; however, the potential role of common polymorphisms of this gene in endocrine tumor susceptibility and tumorigenesis remains mostly unrecognized.
|
24532476 |
2014 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In a rat model of multiple endocrine neoplasia (MEN), absence of functional p27Kip1 protein predisposes to pheochromocytoma and paraganglioma development.
|
17554557 |
2007 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
|
17030811 |
2006 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
|
17519308 |
2007 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene; MEN3 (previously MEN2B) due to RET mutations; and MEN4 due to cyclin-dependent kinase inhibitor (CDNK1B) mutations.
|
23933118 |
2014 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
|
17519308 |
2007 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in CDKN1B have been associated with the inherited multiple endocrine neoplasia syndrome type 4, an autosomal dominant syndrome characterized by varying combinations of tumors affecting at least two endocrine organs.
|
23555276 |
2013 |
|
Multiple Endocrine Neoplasia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Syndromic PHPT includes multiple endocrine neoplasia (MEN) types 1 to 4 (MEN1 to MEN4) and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome.
|
27306766 |
2016 |