| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Genetic and functional analysis of a Li Fraumeni syndrome family in China. | 26818906 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline TP53 mutational spectrum in French Canadians with breast cancer. | 25925845 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. | 24307375 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Benzo[a]pyrene, aflatoxine B₁ and acetaldehyde mutational patterns in TP53 gene using a functional assay: relevance to human cancer aetiology. | 22319594 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | 21343334 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival. | 18628487 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. | 18511570 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. | 16494995 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | 12826609 | 2003 |