Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
|
29752822 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
|
29324801 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
|
29070607 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
|
27276934 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
|
28486781 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.
|
27726232 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recurrent TP53 missense mutation in cancer patients of Arab descent.
|
27866339 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
|
28961279 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
|
28369373 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas.
|
28475293 |
2017 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
|
26911350 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic and functional analysis of a Li Fraumeni syndrome family in China.
|
26818906 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
|
26911350 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.
|
27374712 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
TP53 mutations in older adults with acute myeloid leukemia.
|
26781615 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
|
27501770 |
2016 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |