| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. | 23894400 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients. | 22507745 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast. | 17724467 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. | 18762572 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. | 16861262 | 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 |
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T | 0.700 | CausalMutation | CLINVAR | Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. | 11051239 | 2000 |
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T | 0.700 | CausalMutation | CLINVAR | Screening the p53 status of human cell lines using a yeast functional assay. | 9290701 | 1997 |