|
rs121913343
|
|
Glioblastoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913343
|
|
Colorectal Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
We further demonstrate by glutathione-S-transferase (GST) pull-down and coimmunoprecipitation that PBF binds to the tumor suppressor protein p53, as well as to p53 mutants (Δ126-132, M133K, V197E, G245D, I255F and R273C) identified in the colorectal tumors.
|
25408419 |
2016 |
|
rs121913343
|
|
Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
The most frequent mutation in sporadic brain tumors is mutation R273C, which is relatively rare in grade 4 tumors compared with lower-grade tumors (p = 1.2 × 10(-5), OR 0.43, 95% CI 0.29-0.63).
|
24481542 |
2014 |
|
rs121913343
|
|
Brain Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
The most frequent mutation in sporadic brain tumors is mutation R273C, which is relatively rare in grade 4 tumors compared with lower-grade tumors (p = 1.2 × 10(-5), OR 0.43, 95% CI 0.29-0.63).
|
24481542 |
2014 |
|
rs121913343
|
|
ovarian neoplasm
|
|
0.710 |
GeneticVariation
|
BEFREE |
We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases.
|
21535297 |
2011 |
|
rs121913343
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
|
24677579 |
2014 |
|
rs121913343
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Only one malignant tumor was shown to harbor an arginine 273 serine mutation and immunopositivity for p53.
|
17124412 |
2006 |
|
rs121913343
|
|
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913343
|
|
Squamous cell carcinoma of penis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913343
|
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913343
|
|
Glioblastoma Multiforme
|
|
0.010 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
rs121913343
|
|
Childhood Pleomorphic Xanthoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
On sequencing of the 2 components separately after microdissection, both showed identical IDH1 R132H and TP53 R273C point mutations, whereas the BRAF V600E mutation was limited to the PXA-like component.
|
26414224 |
2016 |
|
rs121913343
|
|
Pleomorphic Xanthoastrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
On sequencing of the 2 components separately after microdissection, both showed identical IDH1 R132H and TP53 R273C point mutations, whereas the BRAF V600E mutation was limited to the PXA-like component.
|
26414224 |
2016 |
|
rs121913343
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
|
24677579 |
2014 |
|
rs121913343
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the R273C mutation variant of the p53 gene, are reported for the first time in BRAF mutant melanoma.
|
24858661 |
2014 |
|
rs121913343
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases.
|
21535297 |
2011 |
|
rs121913343
|
|
Carcinoma, Ovarian Epithelial
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases.
|
21535297 |
2011 |
|
rs121913343
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases.
|
21535297 |
2011 |
|
rs121913343
|
|
Malignant neoplasm of ovary
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases.
|
21535297 |
2011 |
|
rs121913343
|
|
Pancreatic carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines.
|
14978241 |
2004 |
|
rs121913343
|
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines.
|
14978241 |
2004 |