|
rs28934575
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
|
rs28934575
|
|
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 |
|
rs28934575
|
|
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 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Screening for germ line TP53 mutations in breast cancer patients.
|
1591732 |
1992 |
|
rs28934575
|
|
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 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.
|
1631137 |
1992 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
|
7783166 |
1995 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Incidence of germ-line p53 mutations in patients with gliomas.
|
8550239 |
1995 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
p53 gene mutations in pediatric brain tumors.
|
7565304 |
1995 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni syndrome--a molecular and clinical review.
|
9218725 |
1997 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
|
9667734 |
1998 |
|
rs28934575
|
|
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 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.
|
10519380 |
1999 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
|
11370630 |
2001 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
rs28934575
|
|
Li-Fraumeni Syndrome
|
A |
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 |