| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.050 | GeneticVariation | BEFREE | In southern Brazil, pediatric adrenocortical tumor is a sentinel cancer for detecting families with germline p.R337H mutation in TP53 gene. | 28864397 | 2018 |
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0.050 | GeneticVariation | BEFREE | The founder germline R337H mutation is found in 95% of ACTs of young children, a much greater proportion than in adults. | 22056871 | 2012 |
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0.050 | GeneticVariation | BEFREE | A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. | 17427234 | 2008 |
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|
0.050 | GeneticVariation | BEFREE | An inherited germline mutation in the p53 gene (TP53 R337H) is detected in virtually all children with ACT in this region and accounts for the excess cases observed. | 16200634 | 2006 |
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|
0.050 | GeneticVariation | BEFREE | Inheritance of R337H p53 gene mutation in children with sporadic adrenocortical tumor. | 15952083 | 2005 |
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0.010 | GeneticVariation | BEFREE | We report a 9-month-old male who was diagnosed with an adrenocortical tumor and later found to harbor a novel TP53 c.559 G > C germline variant, resulting in p.Gly187Arg. | 30239254 | 2018 |
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0.010 | GeneticVariation | BEFREE | We report a 9-month-old male who was diagnosed with an adrenocortical tumor and later found to harbor a novel TP53 c.559 G > C germline variant, resulting in p.Gly187Arg. | 30239254 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | The patient was found to have a p.R201C-activating mutation in exon 8 of the GNAS1 gene in adrenocortical tumor tissue but not peripheral lymphocytes. | 23105121 | 2013 |
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0.010 | GeneticVariation | BEFREE | Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. | 17427234 | 2008 |