rs121912666
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.
|
15977174 |
2005 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.
|
18307025 |
2008 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.
|
18307025 |
2008 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
|
22923379 |
2012 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.
|
15977174 |
2005 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
|
24702488 |
2015 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.
|
20805372 |
2010 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
|
21761402 |
2012 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.
|
19101993 |
2009 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Transcriptional regulation of the c-H-ras1 gene by the P53 protein is implicated in the development of human endometrial and ovarian tumours.
|
9662334 |
1998 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.
|
10432928 |
1999 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.
|
10589545 |
1999 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.
|
17015838 |
2006 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
High frequency of de novo mutations in Li-Fraumeni syndrome.
|
19556618 |
2009 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.
|
21356188 |
2011 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.
|
15977174 |
2005 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Small molecule induced reactivation of mutant p53 in cancer cells.
|
23630318 |
2013 |
rs121912666
|
|
Li-Fraumeni Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |