|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
|
1933902 |
1991 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.
|
17427234 |
2008 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.
|
19378321 |
2009 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
We show results that indicate that expression of these specific ribosomal protein genes is increased in the presence of the R248W p53 mutant, which provides a mechanism for their overexpression in human tumors.
|
10566557 |
1999 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
The XRCC1 R194W polymorphism was associated with a modest increased risk of TP53 tumor mutations in those who regularly smoked cigarettes (odds ratio, 1.4; 95% confidence interval, 1.02-1.9).
|
19959686 |
2009 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
In contrast to the endometrioid-type tumor, all 3 mutations in 5 serous-type tumors (R273H, 9-bp deletion in codons 240-243, and R248W) showed dominant-negative capacity and presented in a homozygous state in the tumors, indicating a complete functional inactivation.
|
11733960 |
2001 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
Moreover, a cancer-derived ATF3 mutant (R88G) devoid of ubiquitination failed to prevent p53 from MDM2-mediated degradation and thus was unable to activate the tumor suppressor.
|
31796886 |
2019 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
Common tumor mutants (R248W, R273C) were compared with the AA-associated mutants N131Y, R249W, and Q104L.
|
23612969 |
2013 |
|
Neoplasms
|
|
0.760 |
GeneticVariation
|
BEFREE |
Expression of the dominant-negative p53 R248W mutant due to TM significantly reduced the transactivation of several established p53 target genes that mediate the tumor-suppressor function, including <i>CDKN1A</i> (p21) and <i>BBC3</i> (PUMA).
|
29666243 |
2018 |
|
Small cell carcinoma of lung
|
|
0.710 |
GeneticVariation
|
BEFREE |
In SCLC-6 the mutation resulted in substitution of serine for proline at amino acid 278 and in SCLC-4 substitution of tryptophan for arginine at amino acid 248, both nonconservative amino acid substitutions.
|
1648702 |
1991 |
|
Adenocarcinoma of lung (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
To further investigate the mechanism of pemetrexed resistance and potential prognostic outcomes in lung cancer, we established pemetrexed-resistant lung adenocarcinoma cell sublines from CL1 harboring a mutated TP53 gene (R248W) and A549 harboring wild-type TP53.
|
27270426 |
2017 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have recently established the MV4-11 acute myelogenous leukemia (AML) subline, designated as MV4-11 TP53 R248W, which possesses a missense mutation (CGG→TGG; R248W) in the TP53 gene, leading to inactivation of this transcription factor.
|
21550660 |
2011 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Moreover, a cancer-derived ATF3 mutant (R88G) devoid of ubiquitination failed to prevent p53 from MDM2-mediated degradation and thus was unable to activate the tumor suppressor.
|
31796886 |
2019 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
To elucidate the nature of the gain of function, we introduced the most common p53 cancer mutations (R248W and R273H) independently into the humanized p53 knock-in (HUPKI) allele in mice.
|
17417627 |
2007 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
The results show that: (i) the p53 mutants H115N and S116M are thermally more stable than wild-type p53; (ii) H115N but not S116M is capable of rescuing the DNA binding of one of the most frequent p53 mutants in cancer, R248Q, as shown by binding of R248Q/H115N to gadd45 (the promoter of a gene involved in cell-cycle arrest); (iii) the double mutant R248Q/H115N is more stable than wild-type p53; (iv) the effect of H115N as a second-site suppressor to restore DNA-binding activity is specific to R248Q, but not to R248W; (v) molecular-dynamics simulations indicate that R248Q/H115N has a conformation similar to wild-type p53, which is distinct from that of R248Q.
|
20113312 |
2010 |