Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.030 | GeneticVariation | BEFREE | Single Nucleotide Polymorphisms (SNPs) of P53 Pro72Arg, MDM2 SNP309, P21 Ser31Arg, ER SNP594, HER2 Ile655Val, and FGFR2 rs2981582 have drawn attention as genetic factors associated with cancer risk. | 31759353 | 2019 |
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0.030 | GeneticVariation | BEFREE | In summary, the current study reveals a significant association between cancer susceptibility and the HER-2 Ile655Val polymorphism in all genetic models. | 27293060 | 2016 |
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0.030 | GeneticVariation | BEFREE | However, we did not find a significant association between the distribution of genotypes or alleles and cancer characteristics for the HER2 Ile655Val polymorphism. | 20026098 | 2010 |
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0.010 | GeneticVariation | BEFREE | The majority (93%) of <i>HER2</i> mutations were hotspot V659E transmembrane domain (TMD) mutations comparable to activating mutations at this same site in human cancer. | 31431454 | 2019 |
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0.010 | GeneticVariation | BEFREE | The mutations were C250T in the triple-negative cancer case and C228T in the remaining two cases. | 29222734 | 2018 |
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0.010 | GeneticVariation | BEFREE | IL7RA Thr244Ile was genotyped through PCR-RFLP in 403 women without neoplasia, no personal history of malignancy or family history of BC and in 338 BC patients with clinicopathological data available. | 28964592 | 2018 |
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0.010 | GeneticVariation | BEFREE | One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive. | 23236232 | 2012 |
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0.010 | GeneticVariation | BEFREE | In conclusion, using G129R-based fusion proteins to target mammary carcinomas and to tackle multiple hallmarks of cancer at the same time was an effective strategy for treating HER2-postive mammary cancer in this mouse tumor model. | 19287973 | 2009 |