rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
|
1933902 |
1991 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.
|
9704930 |
1998 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers.
|
10719737 |
2000 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma.
|
12209975 |
2002 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
|
16007150 |
2005 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
|
16033918 |
2006 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Geographical variations in TP53 mutational spectrum in ovarian carcinomas.
|
16907706 |
2006 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple cancers and occurs in the population of Southern Brazil at a frequency 10-20 times higher than other TP53 mutants commonly associated with LFS.
|
18248785 |
2008 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome.
|
19046423 |
2008 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
|
19454241 |
2009 |