|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PTEN frequently shows loss of heterozygosity in breast and prostate cancers, and mutations in this gene are responsible for Cowden disease, a rare Mendelian syndrome that includes breast cancer as part of its phenotype.
|
16702386 |
2006 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we aimed to explore whether PIK3CA mutations and PTEN loss are mutually exclusive mechanisms, correlate with other known clinicopathologic markers, or have clinical implication in breast cancer.
|
17575221 |
2007 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AKT1, KRAS and PIK3CA mutations and PTEN loss all exist in women with breast cancer in the mainland China.
|
25816324 |
2015 |
|
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 |
Taken together, our findings indicate that benign hamartomas in CD may develop without loss of the second (wild-type) PTEN allele, whereas the pathogenesis of malignant tumours, such as breast carcinomas, appears to require the complete inactivation of Pten as well as further alterations such as the loss of p53-dependent growth control.
|
12786840 |
2003 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the presence of PTEN MM genotype, there was a 3.1-fold susceptibility to breast cancer compared to the UU genotype (p < 0.001).
|
26715274 |
2016 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations confer very high risks of breast and ovarian cancer. p53 and PTEN mutations lead to very high breast cancer risks associated with rare cancer syndromes.
|
17292821 |
2007 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer on basis of an identified germline mutation in one allele of a high penetrance susceptibility gene (such as BRCA1, BRCA2, CHEK 2, TP53 or PTEN).
|
15351094 |
2004 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most prominent genetic changes were mutual alterations in PTEN and p53 tumor suppressors present in breast cancer and two melanomas.
|
24817989 |
2014 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Opposite Prognostic Impact of Single PTEN-loss and <i>PIK3CA</i> Mutations in Early High-risk Breast Cancer.
|
31018950 |
2019 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since growth factor receptors are amplified in breast cancer, and the tumor suppressor PTEN may be mutated in human breast cancer, it was hypothesized that PI3-K and its downstream effectors would be activated in this disease.
|
11857399 |
2002 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A small group of cases are secondary to mutations in other breast cancer susceptibility genes, such as p53, PTEN or CDH1.
|
18544963 |
2008 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cellular levels of p-AKT(Ser473/Thr308) and p-ERK1/2(Thr202/Tyr204), activating mutations of PIK3CA and inactivating mutations of PTEN may predict response to everolimus in breast cancer cells; these findings have potential applications for treatment personalization of everolimus in breast cancer patients.
|
29476223 |
2018 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, PTEN promoter status and its correlation with genetic and pathologic parameters were analyzed in genomic DNA from Iranian patients with breast cancer.
|
20237868 |
2011 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, the eukaryotic expression vectors pBP-wt-PTEN (containing a wild-type PTEN gene) and pBP-G129R-PTEN (containing a mutant PTEN gene) were used to transfect breast cancer ZR-75-1 cells.
|
17928923 |
2007 |
|
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 analysed PI3KCA hot-spot mutations and PTEN immunohistochemical expression in 129 Her2-positive infiltrating BC treated with trastuzumab, including 26 cases treated with neoadjuvant therapy, 48 metastatic infiltrating breast cancer (IBC; MBC) and 55 early-stage IBC, with complete clinical information (mean follow-up 37, 66 and 32 months, respectively).
|
22744290 |
2012 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this trastuzumab-treated breast cancer population, PIK3CA activating mutations were associated with shorter TTP and PTEN loss with decreased survival.
|
21594665 |
2011 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in the PTEN tumor suppressor gene are causative of Cowden's breast cancer predisposition syndrome, and PTEN is frequently mutated in sporadic breast cancers.
|
11706404 |
2001 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inherited variation in the PTEN promoter region affects the tumor progression and gene expression profile in breast cancer.
|
22171747 |
2011 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some of the tagging single-nucleotide polymorphisms of 5 genes ( PALB2, TP53, Nijmegen breakage syndrome 1, PTEN, and BRCA1-interacting protein 1) involved in the monoubiquitinated FANCD2-DNA damage repair pathway were significantly associated with breast cancer risk.
|
30799775 |
2018 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer patients with an identified germline PTEN mutation are at increased risk of endometrial, thyroid, renal, and colorectal cancers as well as a second breast cancer.
|
26700035 |
2017 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The PI3K/AKT pathway is activated through PIK3CA or AKT1 mutations and PTEN loss in breast cancer.
|
31277699 |
2019 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate the utilities of iTextMine with two use cases involving the gene PTEN and breast cancer and the gene SATB1.
|
30576489 |
2018 |
|
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 |