|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
|
12672316 |
2003 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.
|
15390294 |
2004 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs28934576
|
|
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 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
A simple p53 functional assay for screening cell lines, blood, and tumors.
|
7732013 |
1995 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species.
|
22899716 |
2012 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.
|
15607980 |
2004 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
|
21484931 |
2011 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
Inhibition of glucosylceramide synthase with d-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (PDMP) sensitized p53-R273H cancer cells and tumor xenografts to doxorubicin treatments.
|
27517620 |
2016 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers.
|
30126368 |
2018 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
Previously, we reported that suppression of ceramide glycosylation restored wild-type p53 protein and tumor suppressing function in cancer cells heterozygously carrying p53 R273H, a hot-spot missense mutation; however, the mechanisms underlying the control of mutant protein expression remain elusive.
|
30578766 |
2019 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
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 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
In addition, we have shown potential of CDK2 inhibitors for treatment of tumours expressing R273H mutant p53.
|
29372687 |
2017 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53.
|
31067569 |
2020 |
|
rs28934576
|
|
Neoplasms
|
T |
0.780 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs28934576
|
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE.
|
7725741 |
1995 |