|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Breast Carcinoma
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Breast Carcinoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Breast Carcinoma
|
0.700 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
|
9288766 |
1997 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, introduction of PTEN into human breast carcinoma cells induced apoptotic cell death and inhibited cell growth and tumor formation in nude mice.
|
10415336 |
1999 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Allelic loss of the PTEN region (10q23) in breast carcinomas of poor pathophenotype.
|
10617300 |
1999 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In this study, we analyzed PTEN expression in 33 sporadic primary breast carcinoma samples using immunohistochemistry and correlated this to structural studies at the molecular level.
|
10514407 |
1999 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This observation represented the first documented instance of PTEN/MMAC1 alteration in a MI+ primary breast cancer.
|
10503872 |
1999 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We examined a panel of sporadic breast carcinomas for loss of heterozygosity (LOH) in a 10-cM interval on chromosome 10 known to encompass the PTEN gene.
|
10070859 |
1999 |
|
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results suggest that PTEN does not play a major role in breast cancer formation.
|
10070865 |
1999 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
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 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
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 |