melanoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
melanoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
melanoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
melanoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
melanoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
melanoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
|
9140396 |
1997 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these findings suggest that disruption of MMAC1/PTEN by allelic loss or mutation may contribute to the pathogenesis or neoplastic evolution in a large proportion of malignant melanomas.
|
9288767 |
1997 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of 76 tumor cell lines prescreened for probable LOH, microsequence alterations of MMAC1 were detected in 12 (approximately 16%) of the lines, including those derived from astrocytoma, leukemia, and melanoma tumors, as well as bladder, breast, lung, prostate, submaxillary gland, and testis carcinomas.
|
9393738 |
1997 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, this approach identified PTEN/MMAC1 as a target in malignant melanoma and may provide an alternative means to localizing tumor suppressor genes.
|
9689095 |
1998 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel tumor suppressor gene, PTEN/MMAC1, has been recently shown to be mutated in gliomas, breast, prostate, kidney cancers and melanomas.
|
9692547 |
1998 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that the PTEN gene does not play a major role in the initiation and progression of melanoma.
|
9764804 |
1998 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PTEN/MMAC1 gene have been identified in several types of human cancers and cancer cell lines, including brain, endometrial, prostate, breast, thyroid, and melanoma.
|
10340391 |
1999 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Altogether, these results suggest that mutation and deletion of PTEN/MMAC1 may contribute to the development and progression of malignant melanoma.
|
10651986 |
2000 |
melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Both inactivation of the tumor suppressor gene, PTEN/MMAC1, and oncogenic activation of RAS have been described in human cutaneous melanoma.
|
10766161 |
2000 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The tumor suppressor gene, PTEN/MMAC1, is also located in this region, and, in addition to other tumor types (eg, glioblastoma multiforme, endometrial, and melanoma), PTEN/MMAC1 mutations have been found in prostate cancer cell lines, xenografts, and hormone refractory prostate cancer tissue specimens.
|
10821499 |
2000 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings corroborate that loss of heterozygosity on chromosome 10 is a frequent aberration in malignant melanomas and implicate PTEN as a tumour suppressor gene inactivated by somatic mutation in a fraction of these tumours.
|
10881743 |
2000 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data support the notion that PTEN alterations occur in some metastatic melanomas, and that mutation of this gene plays a role in the progression of some forms of melanoma.
|
10978354 |
2000 |
melanoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
These data support the notion that PTEN alterations occur in some metastatic melanomas, and that mutation of this gene plays a role in the progression of some forms of melanoma.
|
10978354 |
2000 |
melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Of the 5 melanomas showing no PTEN expression, 4 had no mutation or deletion of PTEN.
|
11021816 |
2000 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Both CDKN2A and PTEN have been identified as genes involved in sporadic melanoma development; however, mutations are more common in cell lines than uncultured tumors.
|
11221509 |
2000 |
melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results obtained from tissue samples underline that mutations of PTEN/MMAC1 are not an essential event in the onset of malignant melanoma of the skin, but could have an impact on tumor progression.
|
11297763 |
2001 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Deletions of PTEN/MMAC1 on 10q23.3 and AIM1 on 6q21 as well as mutations of ras gene are involved in the later progression stages of melanoma.
|
11323215 |
2001 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The two melanomas studied were also negative for PTEN immunostaining.
|
12051632 |
2002 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ad-PTEN transduced melanoma cell lines or normal cells were assayed for cell death, apoptosis, gene expression, invasion and migration, and regulation of angiogenesis.
|
12435856 |
2002 |
melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sequencing the PTEN/MMAC1 cDNAs in 26 melanoma resection specimens (21 primary melanomas, five metastases), we detected three point mutations and two nucleotide deletions which did not represent genetic polymorphisms.
|
12454773 |
2002 |