|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.
|
23733769 |
2013 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.
|
21192060 |
2011 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
|
20407015 |
2010 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
|
19454241 |
2009 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?
|
19717094 |
2009 |
|
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
|
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
|
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 |
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
|
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
|
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
|
T |
0.900 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
|
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 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Germline TP53 mutational spectrum in French Canadians with breast cancer.
|
25925845 |
2015 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.
|
24603336 |
2014 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
A young woman with bilateral breast cancer: identifying a genetic cause and implications for management.
|
23667202 |
2013 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
|
23950206 |
2013 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma.
|
22919068 |
2012 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53: one name, many proteins.
|
22713868 |
2012 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
|
21601526 |
2011 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
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 |
|
rs121912651
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.
|
19378321 |
2009 |