rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
|
1933902 |
1991 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.
|
10229196 |
1999 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Differentially expressed downstream genes in cells with normal or mutated p53.
|
12725534 |
2003 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
A global suppressor motif for p53 cancer mutants.
|
15037740 |
2004 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.
|
16861262 |
2007 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.
|
17308077 |
2007 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
|
18685109 |
2008 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.
|
19756158 |
2009 |
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
|
20522432 |
2010 |