Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
CG | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.050 | GeneticVariation | BEFREE | Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. | 30974190 | 2019 |
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|
0.050 | GeneticVariation | BEFREE | In conclusion, our results suggest that MDM2 SNP 309 may contribute to the LFL phenotype and also to an earlier age at diagnosis of ACC and BC cancer in carriers of the R337H founder mutation. | 28756477 | 2018 |
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|
0.050 | GeneticVariation | BEFREE | The systematic review of literature was performed on 12 selected articles, describing a total of 175,462 individuals tested for the R337H mutation, including 1548 individuals with cancer and 118 individuals with a family history of Li-Fraumeni and Li-Fraumeni-like syndrome. | 26681051 | 2015 |
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|
0.050 | GeneticVariation | BEFREE | Family history was consistent with an LFL tumour pattern, and genotyping identified the TP53 p.R337H mutation in both alleles in genomic DNA from lymphocytes and fibroblasts. | 23570263 | 2013 |
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|
0.050 | GeneticVariation | BEFREE | Family history of cancer (with 2 or more cancer cases) was exclusively identified on the parental side segregating the R337H mutation, and 50% (7/14) of them were compatible with Li-Fraumeni-like syndrome. | 21445348 | 2011 |
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|
0.010 | GeneticVariation | BEFREE | However, the 14538 G>A (Arg290His) mutation was identified in a family which did not exhibit features consistent with LFS or Li-Fraumeni-like (LFL) syndrome. | 17541742 | 2008 |