|
rs1057519989
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Direct sequencing revealed that the cancer cells contained a missense mutation (c.730G>A) in the TP53 gene.
|
30636633 |
2019 |
|
rs1057520001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single Nucleotide Polymorphisms (SNPs) of P53 Pro72Arg, MDM2 SNP309, P21 Ser31Arg, ER SNP594, HER2 Ile655Val, and FGFR2 rs2981582 have drawn attention as genetic factors associated with cancer risk.
|
31759353 |
2019 |
|
rs121912660
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the human cancer lines MDA-MB-231 (mutp53-R280K) and DLD1 (mutp53-S241F), SAHA induced a significant mutp53 degradation.
|
30745455 |
2019 |
|
rs28934573
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the human cancer lines MDA-MB-231 (mutp53-R280K) and DLD1 (mutp53-S241F), SAHA induced a significant mutp53 degradation.
|
30745455 |
2019 |
|
rs886039484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single Nucleotide Polymorphisms (SNPs) of P53 Pro72Arg, MDM2 SNP309, P21 Ser31Arg, ER SNP594, HER2 Ile655Val, and FGFR2 rs2981582 have drawn attention as genetic factors associated with cancer risk.
|
31759353 |
2019 |
|
rs28934575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results indicate that mutant TP53 G245C and R273H can lead to more aggressive phenotypes and enhance cancer cell malignancy, which further uncover TP53 function in carcinogenesis and might be useful in clinical diagnosis and therapy of TP53 mutant cancers.
|
30126368 |
2018 |
|
rs55819519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |
|
rs770374782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |
|
rs1800372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although one polymorphism is found in high frequency in this cohort (rs1800372:A>G, 9.0%), it was not associated with the risk of developing cancer before the age of 35 years in an extended cohort of 1,420 breast cancer cases.
|
27957778 |
2017 |
|
rs942158624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis.
|
27181203 |
2017 |
|
rs2287499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the rs2287499 polymorphism may be associated with risk of cancer.
|
27525856 |
2016 |
|
rs17880560
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical analyses stratified on family structure showed that cancer tended to occur ~15 years later in mutation carriers who also carried the variant alleles of two polymorphisms within predicted G4-forming regions, rs17878362 (TP53 PIN3, 16 bp duplication in intron 3; P = 0.082) and rs17880560 (6 bp duplication in 3' flanking region; P = 0.067).
|
24336192 |
2014 |
|
rs867114783
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we developed a genetically modified porcine model of cancer in which animals express a mutation in TP53 (which encodes p53) that is orthologous to one commonly found in humans (R175H in people, R167H in pigs).
|
25105366 |
2014 |
|
rs55832599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effects of the mutations were rationalized based on homology modeling of the Dmp53 DNA-binding domain, suggesting that the drastically different effects of a cancer mutation in the loop-sheet-helix motif (R282W in Hp53 and R268W in Dmp53) on stability and DNA binding affinity of the two proteins are related to conformational differences in the L1 loop adjacent to the mutation site.
|
23135266 |
2012 |
|
rs762846821
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, using FSF-Kras(G12D/+); p53(FRT/FRT) mice, we demonstrate that an adenovirus expressing FlpO recombinase can initiate primary lung cancers and sarcomas in mice. p53(FRT) mice will enable dual recombinase technology to study cancer biology because Cre is available to modify genes specifically in stromal cells to investigate their role in tumor development, progression and response to therapy.
|
22228755 |
2012 |
|
rs866419664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effects of the mutations were rationalized based on homology modeling of the Dmp53 DNA-binding domain, suggesting that the drastically different effects of a cancer mutation in the loop-sheet-helix motif (R282W in Hp53 and R268W in Dmp53) on stability and DNA binding affinity of the two proteins are related to conformational differences in the L1 loop adjacent to the mutation site.
|
23135266 |
2012 |
|
rs563378859
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two polymorphisms of p21 gene in codon 31 (p21 C98A, dbSNP rs1801270) and the 3'UTR (p21 C70T, dbSNP rs1059234) may affect protein expression and play a role in cancer susceptibility.
|
20433229 |
2010 |
|
rs876658468
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings could be exploited in designing strategies for cancer therapy to identify molecules that could mimic the effect of H115N in restoring function to oncogenic p53 mutants.
|
20113312 |
2010 |
|
rs1800371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, another TP53 SNP at codon 47 (Pro47Ser) was reported to have a low apoptosis-inducing ability; however, there are no association studies between this SNP and cancer.
|
18393224 |
2008 |
|
rs587778720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An Arg213Gln TP53 germline mutation was detected in 12 out of 15 affected family members whereas testing for other cancer susceptibility genes in selected patients was negative.
|
16736287 |
2006 |
|
rs758781593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One germline TP53 mutation (c.408A > T/p.Gln136His) and two somatic mutations (c.1022T > G/p.Phe341Cys and c.108-109ins22/p.His37fsX13) are novel to human cancer.
|
16941491 |
2006 |
|
rs876659384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The E287X TP53 mutation segregated with the cancer phenotype in the family members from whom DNA samples were available.
|
15368100 |
2004 |
|
rs587782529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the R337C mutant retains some functional activity yet leads to a predisposition to cancer, suggesting that even partial inactivation of p53 oligomerization is sufficient for accelerated tumour progression.
|
9704931 |
1998 |
|
rs1019340046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
|
rs750600586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies.
|
8321049 |
1993 |