| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. | 25584008 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. | 25945745 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. | 24382691 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | TP53 germline mutations in adult patients with adrenocortical carcinoma. | 22170717 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience. | 21348412 | 2010 |
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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 | Characterization of germline TP53 splicing mutations and their genetic and functional analysis. | 11420676 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. | 9681828 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. | 9242456 | 1997 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germ-line splicing mutation of the p53 gene in a cancer-prone family. | 1467311 | 1992 |
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|
A | 0.700 | GeneticVariation | CLINVAR |