PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease UNIPROT
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas. 9072974 1997
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 AlteredExpression disease BEFREE Thus, PTEN appears to be the major target of inactivation on chromosome 10q in glioblastoma multiforme. 9331071 1997
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE Of 124 tumor specimens exhibiting LOH that have been screened for MMAC1 alterations to date, we have detected variants in 13 (approximately 10%) of these primary tumors; the highest frequency of variants was found in glioblastoma specimens (approximately 23%). 9393738 1997
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE Competitive PCR assays were developed to address the possible occurrence of PTEN/MMAC1 homozygous deletions in glioblastomas, and this analysis identified three samples having loss of both PTEN/MMAC1 alleles. 9393744 1997
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE Most recently, a putative tumor suppressor gene (PTEN/MMAC1) has been identified in the region between D10S215 and an adjacent, more telomeric marker (D10S541) and was found to be altered in breast cancers, prostate cancers, and glioblastomas. 9491329 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 AlteredExpression disease BEFREE Here, we show that PTEN expression potently suppressed the growth and tumorigenicity of human glioblastoma U87MG cells. 9860981 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression. 9796706 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE These findings confirm that PTEN is one of the chromosome 10 tumor suppressor genes involved in the development of glioblastomas. 9619835 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE PTEN mutations were detected in 9 of 36 glioblastomas (25%). 9426052 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE These data indicate that PTEN/MMAC1 is inactivated in a subset of GBM and suggest that the high mutation frequency previously found in GBM established cell lines reflects culture condition artifacts rather than the true mutation frequency in vivo. 9484844 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE Infection of MMAC1-mutated U87MG glioblastoma cells with MMCB resulted in dose-dependent exogenous MMAC1 protein expression as detected by Western blotting of cell lysates. 9622068 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE The observation that secondary glioblastomas have a p53 mutation as a genetic hallmark but rarely contain a PTEN mutation supports the concept that primary and secondary glioblastomas develop differently on a genetic level. 9690672 1998
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE The final progression process leading to glioblastoma multiforme seems to need additional genetic abnormalities in the long arm of chromosome 10; one of which is deletion and/or functional loss of the PTEN/MMAC1 gene. 11550308 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE Further somatic PTEN mutations have been found in glioblastomas and to a lesser extent in meningiomas. 10371336 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE It has been shown in glioblastoma cell lines that loss of chromosome 10q, where the PTEN gene is located, is associated with increased angiogenic activity in the conditioned medium attributable to downregulation of thrombospondin-1, a negative regulator of angiogenesis. 10208463 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE PTEN is a candidate tumor suppressor gene identified on human chromosome 10q23.3 that is frequently mutated or deleted in 30% to 44% of glioblastomas. 10331435 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE Expression of carboxyl-terminal mutants in PTEN-deficient glioblastoma cells permitted the anchorage-independent growth of the cells that otherwise was suppressed by wild-type PTEN. 10468583 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 AlteredExpression disease BEFREE Therefore, overexpression of MMAC1 via adenovirus-mediated gene transfer suppresses tumor cell growth through cell cycle inhibitory mechanisms, and as such, represents a potential therapeutic approach to treating glioblastomas. 10344736 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE We recently reported that PTEN (MMAC1) on 10q23.3 is mutated in approximately 30% of primary (de novo) glioblastomas but rarely in secondary glioblastomas that progressed from low-grade or anaplastic astrocytomas. 10433932 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE Thus, loss of wild type PTEN represents one of the major abnormalities associated with astrocytic tumor progression to glioblastoma and provides a strong selective growth advantage when cultivating glioblastoma tissue in xenografts. 10560660 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE Moreover, they suggest that PTEN alterations are equally involved in the 2 glioblastoma pathways defined by the presence of EGFR amplification and p53 mutation. 10096247 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE We found evidence for a PTEN-related sequence (PTEN-rs) on genomic DNA of GBM and non-neoplastic cells. 10378766 1999
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 Biomarker disease BEFREE PTEN/MMAC1 (phosphatase and tensin homolog/mutated in multiple advanced cancers 1) is a tumor suppressor gene, the inactivation of which is an important step in the progression of gliomas to end-stage glioblastoma multiforme. 11303623 2000
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.500 GeneticVariation disease BEFREE The psiPTEN expression was complementary to PTEN mutation, for 14 of 18 glioblastomas showed either PTEN mutation or psiPTEN expression and only one case showed both PTEN mutation and psiPTEN expression (P<0.046), suggesting a pathological role of psiPTEN expression as an alternative to PTEN mutation in glioblastomas. 10980610 2000