|
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
CTD_human |
p53 mutants cooperate with HIF-1 in transcriptional regulation of extracellular matrix components to promote tumor progression.
|
30381462 |
2018 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic predisposition to hematologic malignancies: management and surveillance.
|
28600339 |
2017 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
|
28418444 |
2017 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
|
28649662 |
2017 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
|
Sarcoma
|
1.000 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |
|
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
CTD_human |
Thus, we concluded that highly expressed HBXIP accelerates the MDM2-mediated degradation of p53 in breast cancer through modulating the feedback loop of MDM2/p53, resulting in the fast growth of breast cancer cells.
|
26229107 |
2015 |
|
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
CTD_human |
Genomic landscape of cutaneous T cell lymphoma.
|
26192916 |
2015 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Here, we established patient-derived iPSCs from a Li-Fraumeni syndrome (LFS) family and investigated the role of mutant p53 in the development of osteosarcoma (OS).
|
25860607 |
2015 |
|
Liver carcinoma
|
1.000 |
Therapeutic
|
disease |
CTD_human |
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
|
25822088 |
2015 |
|
Liver carcinoma
|
1.000 |
Biomarker
|
disease |
CTD_human |
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
|
25822088 |
2015 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Liver carcinoma
|
1.000 |
Therapeutic
|
disease |
CTD_human |
Most HCC are associated with chronic infection by Hepatitis B Virus while a G → T mutation at codon 249 of the TP53 gene, R249S, specific for exposure to aflatoxin, is detected in tumors for up to 30% of cases.
|
22675488 |
2012 |
|
Liver carcinoma
|
1.000 |
Biomarker
|
disease |
CTD_human |
Most HCC are associated with chronic infection by Hepatitis B Virus while a G → T mutation at codon 249 of the TP53 gene, R249S, specific for exposure to aflatoxin, is detected in tumors for up to 30% of cases.
|
22675488 |
2012 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the p53 Tumor Suppressor Gene: Important Milestones at the Various Steps of Tumorigenesis.
|
21779514 |
2011 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mouse models of p53 functions.
|
20452944 |
2010 |
|
Sarcoma
|
1.000 |
Biomarker
|
group |
CTD_human |
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.
|
20601955 |
2010 |
|
Liver carcinoma
|
1.000 |
Biomarker
|
disease |
CTD_human |
We have therefore generated 'knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot p53 mutant, R246S -- the mouse equivalent of human R249S, which is associated with hepatocellular carcinomas.
|
18477611 |
2008 |
|
Liver carcinoma
|
1.000 |
Therapeutic
|
disease |
CTD_human |
We have therefore generated 'knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot p53 mutant, R246S -- the mouse equivalent of human R249S, which is associated with hepatocellular carcinomas.
|
18477611 |
2008 |
|
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
CTD_human |
Breast cancers with a TP53 mutation were repeatedly shown to have a poor outcome, but whether this reflects poor response to treatment or greater intrinsic aggressiveness of the tumor is unknown.
|
17388661 |
2007 |
|
Liver carcinoma
|
1.000 |
Biomarker
|
disease |
CTD_human |
These results suggest the level of p53 expression could determine if the HCC cells would go into cell cycle arrest or apoptosis.
|
17191126 |
2007 |