Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | GeneticVariation | BEFREE | Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. | 27663983 | 2016 |
||||
|
0.070 | GeneticVariation | BEFREE | In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC. | 23570263 | 2013 |
||||
|
0.070 | GeneticVariation | BEFREE | The availability of a reliable molecular marker to detect the R337P TP53 mutation allows the rapid identification of carriers in families that have a child with ACC. | 20426520 | 2010 |
||||
|
0.070 | GeneticVariation | BEFREE | The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions. | 12634062 | 2003 |
||||
|
0.070 | GeneticVariation | BEFREE | Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes in a tissue-specific manner to the development of pediatric ACC. | 11481490 | 2001 |
||||
|
0.070 | GeneticVariation | BEFREE | These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC. | 24936644 | 2014 |
||||
|
0.070 | GeneticVariation | BEFREE | TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma. | 24122735 | 2013 |