|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
|
28472496 |
2017 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
|
27714481 |
2017 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
|
26823150 |
2016 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
|
27553368 |
2016 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.
|
26681051 |
2015 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay.
|
25736369 |
2015 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.
|
25945745 |
2015 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
|
24784157 |
2014 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
|
27081505 |
2014 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older.
|
24936644 |
2014 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older.
|
24936644 |
2014 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.
|
23570263 |
2013 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.
|
20978130 |
2011 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
|
19877175 |
2010 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.
|
18248785 |
2008 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
|
16007150 |
2005 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.
|
11753428 |
2002 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Structure and functionality of a designed p53 dimer.
|
11254385 |
2001 |
|
rs121912664
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.710 |
CausalMutation
|
CLINVAR |
An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.
|
11481490 |
2001 |