|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
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 |
|
Li-Fraumeni Syndrome
|
|
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 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
|
23538418 |
2013 |
|
Li-Fraumeni Syndrome
|
|
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 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.
|
15951970 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.
|
26225655 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Screening for germ line TP53 mutations in breast cancer patients.
|
1591732 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Regulation of the p53 response and its relationship to cancer.
|
26205489 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Regulation of the p53 response and its relationship to cancer.
|
26205489 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
p53 gene mutations in pediatric brain tumors.
|
7565304 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
|
15722483 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
|
15722483 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni syndrome--a molecular and clinical review.
|
9218725 |
1997 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |