Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Malignant neoplasm of breast
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report three novel MMAC1 mutations in CS and demonstrate that MMAC1 mutations are associated with CS and breast cancer.
|
9345101 |
1997 |
Malignant neoplasm of breast
|
0.800 |
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 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that somatic mutations of PTEN/ MMAC1 occur in only a small fraction of primary breast cancers and confirm the role of this gene in the etiology of Cowden disease.
|
9288766 |
1997 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results suggested that mutation of the PTEN/MMAC1 gene is not a major factor in the development of most primary breast cancers.
|
9510470 |
1998 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
These mRNA missense variants are similar to PTEN/MMAC1 transcript aberrations which have been reported in patients with breast cancer.
|
9697884 |
1998 |
Malignant neoplasm of breast
|
0.800 |
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 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A new tumor suppressor gene PTEN/MMAC1 was recently isolated at chromosome 10q23 and found to be inactivated by point mutation or homozygous deletion in glioma, prostate and breast cancer.
|
9671402 |
1998 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The tumor cell line is marked by multiple additional genetic changes including a high degree of aneuploidy, an acquired mutation of TP53 with wild-type allele loss, an acquired homozygous deletion of the PTEN gene, and loss of heterozygosity at multiple loci known to be involved in the pathogenesis of breast cancer.
|
9699648 |
1998 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that germline mutations in PTEN are an uncommon cause of genetic predisposition to breast cancer within the general population.
|
9715274 |
1998 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While preliminary, these findings suggest that further study is warranted to determine whether this allelic variant of PTEN could function as a low penetrance breast cancer susceptibility allele.
|
10051004 |
1999 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, PTEN germline mutations were searched for in a series of 20 unrelated women with breast cancer who also had a personal or familial breast-brain tumour history.
|
10371336 |
1999 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel tumor suppressor gene, PTEN, has recently been identified at chromosome 10q23, which is inactivated in a number of different tumor types including breast cancer.
|
10415336 |
1999 |
Malignant neoplasm of breast
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
In general, the inverse correlation between PTEN protein level and Akt phosphorylation was found in a panel of breast cancer cell lines.
|
10582703 |
1999 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This observation represented the first documented instance of PTEN/MMAC1 alteration in a MI+ primary breast cancer.
|
10503872 |
1999 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
To further determine the role of PTEN/MMAC1 in breast cancer in Chinese, we used loss of heterozygosity (LOH), single strand conformation polymorphism (SSCP) with direct sequencing of variant bands, and Southern blot analysis methods to analyze mutations in PTEN/MMAC1 in 52 cases of breast cancer.None had LOH at chromosome 10q23.3.
|
10472782 |
1999 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results suggest that PTEN does not play a major role in breast cancer formation.
|
10070865 |
1999 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Both mutants showed partial tumour suppressor activity when compared to wild type PTEN when transfected into a PTEN null breast cancer cell line.
|
10807691 |
2000 |
Malignant neoplasm of breast
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The involvement of PTEN in human mammary oncogenesis has been implicated from studies showing that germline PTEN mutation in Cowden disease predisposes to breast cancer, the frequent loss of heterozygosity at the PTEN locus, and reduced PTEN protein levels in sporadic breast cancers.
|
11737885 |
2001 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we show that PTEN plays a unique role in the insulin-signalling pathway in a breast cancer model.
|
11230180 |
2001 |
Malignant neoplasm of breast
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.
|
11230179 |
2001 |