|
rs121909218
|
|
Hamartoma Syndrome, Multiple
|
|
0.820 |
GeneticVariation
|
BEFREE |
G129E is a common germline PTEN mutations found in Cowden syndrome patients.
|
17324556 |
2007 |
|
rs121909218
|
|
Hamartoma Syndrome, Multiple
|
|
0.820 |
GeneticVariation
|
BEFREE |
A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1.
|
10051603 |
1999 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
|
0.810 |
GeneticVariation
|
BEFREE |
Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
|
10076877 |
1999 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
|
25756585 |
2015 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS.
|
10353779 |
1999 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease.
|
10232405 |
1999 |
|
rs121909231
|
|
Lhermitte-Duclos disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
|
25756585 |
2015 |
|
rs121909231
|
|
Lhermitte-Duclos disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease.
|
10232405 |
1999 |
|
rs121909219
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7.
|
26678657 |
2016 |
|
rs121909224
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan Zonana phenotype.
|
10772390 |
2000 |
|
rs121909229
|
|
Mammary Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server.
|
27221918 |
2016 |
|
rs562015640
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
A lysine mutant of PTEN, K289E associated with Cowden syndrome, retains catalytic activity but fails to accumulate in nuclei of patient tissue due to an import defect.
|
17218261 |
2007 |
|
rs786201044
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
To the best of our knowledge, the C136R mutation has not previously been reported in CD patients.
|
10848731 |
2000 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Studies have shown that NSML-associated Y279C mutation exhibited the reduced phosphatase activity, leading to loss-of-function (LOF) of SHP2.
|
31258001 |
2019 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
We found that LS-associated SHP2 mutants (Y279C, T468M, Q506P, and Q510E) exhibited a substantially reduced phosphatase activity toward parafibromin when compared with wild-type SHP2.
|
26742426 |
2016 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
|
26377839 |
2015 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
We report here 2 unrelated Japanese cases of LS with different PTPN11 mutations (p.Y279C and p.T468P).
|
25917897 |
2015 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM).
|
21339643 |
2011 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.
|
16679933 |
2006 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
rs587782343
|
|
LEOPARD Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
A missense mutation (836A-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in the patient with LEOPARD syndrome, whereas no mutation in PTPN11 gene was detected in the father or in additional family members.
|
14991917 |
2004 |
|
rs701848
|
|
Squamous cell carcinoma of esophagus
|
|
0.050 |
GeneticVariation
|
BEFREE |
The results showed that compared with CC genotype, the individuals with TT and TT + CT genotypes of rs701848 were significantly associated with increased ESCC risk (OR adjusted 1.56, 95% CI 1.07-2.27 and 1.41, 1.01-1.97).
|
31269493 |
2020 |
|
rs701848
|
|
Squamous cell carcinoma of esophagus
|
|
0.050 |
GeneticVariation
|
BEFREE |
Moreover, Asian subjects carrying the TC/CC genotype or C allele of rs701848 were associated with increased risk of esophageal squamous cell cancer.
|
29221206 |
2017 |
|
rs701848
|
|
Squamous cell carcinoma of esophagus
|
|
0.050 |
GeneticVariation
|
BEFREE |
Subjects with TC or CC of rs2735343 and TC or CC of rs701848 genotype have highest ESCC risk, compared to subjects with TT of rs2735343 and TT of rs701848 genotype, OR (95% CI) was 2.76 (1.37-3.45) after covariates adjustment.
|
26541596 |
2016 |
|
rs701848
|
|
Squamous cell carcinoma of esophagus
|
|
0.050 |
GeneticVariation
|
BEFREE |
In summary, the polymorphisms of PTEN rs701848 T/C and rs2735343 C/G might represent crucial modifying factors for development of ESCC.
|
24391010 |
2013 |