Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred.
|
23255406 |
2013 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
APC mutated (Min) mice develop large and small bowel adenomas, a small proportion of which, in time, become malignant. p53 deficient mice develop predominantly lymphoma and sarcoma.
|
7478622 |
1995 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Because these rare tumors also respond poorly to standard chemotherapy and bear a 50% 5-year mortality rate, we investigated the possible therapeutic benefits of p53 gene restoration in sarcomas.
|
10766348 |
2000 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
Both Tp53(Δ11/+) and Tp53(Δ11/Δ11) rats developed a wide spectrum of tumors, most commonly sarcomas.
|
22917926 |
2013 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
Cancer Res., 4: 1985-1994, 1998; M. Milas et al., Cancer Gene Ther., in press, 2000) have shown that the restoration of wild-type (wt) p53 enhances cell cycle control in vitro and inhibits the growth of human soft-tissue sarcoma in severe combined immunodeficient mice.
|
10910082 |
2000 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Clinically relevant TP53 germline mutations were identified in three of the four patients (75%) with a family history of at least two LFS-linked cancers (breast, bone or soft tissue sarcoma, brain tumors or adrenocortical cancer); 1 of the 17 patients (6%) with a family history of breast cancer only, and 1 of the 62 patients (< 2%) with no family history of breast or LFS-linked cancers.
|
22507745 |
2012 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Collectively, these findings indicate that radiation is causative for soft tissue sarcomas via p53 gene mutations.
|
9645763 |
1998 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Compared with other highly malignant mesenchymal pediatric tumors such as osteosarcomas, mutations of p53 and ras in Ewing's sarcomas are an extraordinarily rare event.
|
9587933 |
1998 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Correlations of telomere length, P53 mutation, and chromosomal translocation in soft tissue sarcomas.
|
26191279 |
2015 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
Dual Pten/Tp53 suppression promotes sarcoma progression by activating Notch signaling.
|
23708211 |
2013 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Early sarcoma (at age <20 years) was associated with missense mutations in exons encoding the DNA-binding domain of p53 protein.
|
21837677 |
2012 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
For 64 cases the results were concordant: 56 sarcomas were considered to have wild-type p53 by both techniques.
|
8821948 |
1996 |
Sarcoma
|
1.000 |
AlteredExpression
|
group |
BEFREE |
Four affected members of the family with sarcoma or premenopausal breast cancer showed increased expression of p53 protein in their normal tissues as detected by immunohistochemistry.
|
7981072 |
1994 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
Four recurred as immature or mature teratoma and one as a sarcoma; all except one showed frequent cells positive for p53 in the recurrent tumor.
|
12202994 |
2003 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Functional P53 Arg72Pro and MDM2 T309G single-nucleotide polymorphisms (SNP) are considered to have significant effects on risk of sarcomas.
|
22205265 |
2012 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Furthermore, p53 loss of heterozygosity was observed in 26 out of 29 implant-induced sarcomas (90%).
|
16857722 |
2007 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Genes that are frequently mutated in sarcoma include TP53, NF1, PIK3CA, HDAC1, IDH1 and 2, KDR, KIT and MED12.
|
22387046 |
2012 |
Sarcoma
|
1.000 |
Biomarker
|
group |
BEFREE |
Genetic depletion of Snail1 in MSCs that are deficient in p53 tumor suppressor downregulates MSC markers and prevents the capability of these cells to originate sarcomas in immunodeficient SCID mice.
|
24947186 |
2014 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.
|
23824362 |
2013 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.
|
12610779 |
2003 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Germline TP53 mutations predispose to a rare familial cancer syndrome, the Li-Fraumeni Syndrome (LFS), characterized by the early onset of multiple cancers including childhood adrenocortical carcinomas, sarcomas and brain tumors, and breast and colon cancer in young adults.
|
18248785 |
2008 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Germline TP53 mutations are found in Li-Fraumeni syndrome (LFS) patients, predisposed to soft tissue sarcoma and other malignancies.
|
21484931 |
2011 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer.
|
23612572 |
2013 |
Sarcoma
|
1.000 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
Sarcoma
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in the p53 tumor suppressor gene are associated with the Li-Fraumeni syndrome, characterized by childhood sarcoma, leukemia and early onset breast cancer and has occasionally been found also in familial breast-ovarian cancer.
|
8710380 |
1996 |