Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gastric cancer in individuals with Li-Fraumeni syndrome.
|
21552135 |
2011 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gastric cancer in individuals with Li-Fraumeni syndrome.
|
21552135 |
2011 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Validation of a yeast functional assay for p53 mutations using clonal sequencing.
|
23897043 |
2013 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain of function of mutant p53 by coaggregation with multiple tumor suppressors.
|
21445056 |
2011 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.
|
16778209 |
2006 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
|
23894400 |
2013 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.
|
17724467 |
2008 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain of function of mutant p53 by coaggregation with multiple tumor suppressors.
|
21445056 |
2011 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
|
23894400 |
2013 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mapping the p53 transcriptome universe using p53 natural polymorphs.
|
24076587 |
2014 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
|
9667734 |
1998 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mapping the p53 transcriptome universe using p53 natural polymorphs.
|
24076587 |
2014 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Screening the p53 status of human cell lines using a yeast functional assay.
|
9290701 |
1997 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells.
|
16778209 |
2006 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
|
18511570 |
2008 |
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Validation of a yeast functional assay for p53 mutations using clonal sequencing.
|
23897043 |
2013 |
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
|
25105660 |
2014 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
|
23580068 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.
|
24729566 |
2014 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.
|
8023157 |
1994 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.
|
11051239 |
2000 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Gastric cancer in individuals with Li-Fraumeni syndrome.
|
21552135 |
2011 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mapping the p53 transcriptome universe using p53 natural polymorphs.
|
24076587 |
2014 |