|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
|
26270727 |
2015 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The impact of R213 mutation on p53-mediated p21 activity.
|
24384472 |
2014 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Number of rare germline CNVs and TP53 mutation types.
|
23259501 |
2012 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs587778720
|
|
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 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
|
19468865 |
2009 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).
|
17541742 |
2008 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation.
|
18208484 |
2008 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation.
|
16736287 |
2006 |
|
rs587778720
|
|
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 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases.
|
7707106 |
1995 |
|
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.
|
8080050 |
1994 |