|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
|
28472496 |
2017 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
|
29263802 |
2016 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
|
26641009 |
2016 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia with TP53 germ line mutations.
|
27621308 |
2016 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.
|
24835218 |
2014 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.
|
24573247 |
2014 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations.
|
24573247 |
2014 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
|
23538418 |
2013 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
|
21761402 |
2012 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
|
20128691 |
2010 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
|
18511570 |
2008 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.
|
16551709 |
2006 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
|
15925506 |
2005 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.
|
15951970 |
2005 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.
|
12885464 |
2003 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
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
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
|
rs28934575
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |