|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Kinases, tails and more: regulation of PTEN function by phosphorylation.
|
25448482 |
2015 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Tumour suppressor PTEN regulates cell cycle and protein kinase B/Akt pathway in breast cancer cells.
|
16619501 |
2006 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.
|
19719509 |
2010 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation.
|
11035045 |
2001 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Appendectomy, tonsillectomy, and neoplasia.
|
1097835 |
1975 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
When overgrowth bumps into cancer: the PTEN-opathies.
|
23613428 |
2013 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phosphorylation of the PTEN tail regulates protein stability and function.
|
10866658 |
2000 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
|
24498881 |
2014 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
|
9288766 |
1997 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cowden disease in a family: a clinical and genetic diagnosis.
|
16021145 |
2005 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024).
|
10400993 |
1999 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
|
16007494 |
2005 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cancer phenomics: RET and PTEN as illustrative models.
|
17167516 |
2007 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germ-line PTEN mutations were detected in all of five families with both breast cancer and CD, in one family with juvenile polyposis syndrome, and in one of four families with breast and thyroid tumors.
|
9399897 |
1997 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We confirmed that the PTEN/MMAC1 gene is indeed the gene for Cowden disease by a refined localization of the gene to the interval between D10S1761 and D10S541, which contains the PTEN/MMAC1 gene and, by mutation analysis in eight unrelated familial and 11 sporadic patients with Cowden disease.
|
9259288 |
1997 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.
|
23886400 |
2013 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
|
21956414 |
2011 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
|
23335809 |
2013 |