Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.080 | GeneticVariation | BEFREE | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. | 21390047 | 2011 |
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0.080 | GeneticVariation | BEFREE | To establish if the XPD common variants Asp312Asn and Lys751Gln are associated with an increased melanoma or breast cancer risk we performed an association study based on genotyping 426 unselected patients with malignant melanoma (MM) and 1830 consecutive breast cancer cases and compared the results to 1262 geographically matched newborns, 621 adults from the region of Szczecin (unselected for age and cancer family history), 421 healthy adults age- and sex-matched with the melanoma cases and 511 healthy controls matched with the breast cancer patients from the region of Szczecin. | 16685590 | 2006 |
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0.080 | GeneticVariation | BEFREE | Therefore, the meta-analysis suggests that there is a significant association between ERCC2 Lys751Gln polymorphism and susceptibility to cutaneous melanoma. | 23494240 | 2013 |
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0.080 | GeneticVariation | BEFREE | The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. | 25169498 | 2014 |
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0.080 | GeneticVariation | BEFREE | We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carcinoma, and 874 controls) along with exploratory analysis on the haplotype structure of the XPD gene. | 15941969 | 2005 |
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0.080 | GeneticVariation | BEFREE | This meta-analysis suggested that both the Lys751Gln and Asp312Asn polymorphisms were risk factors for melanoma risk in population-based subgroup. | 29768284 | 2018 |
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0.080 | GeneticVariation | BEFREE | Finally, the meta-analysis with 2167 cases/4211 controls showed that the EGF rs4444903 had no significant association with CM (p>0.05), while the analysis with 3,492 cases/5,381 controls indicated the A allele of XPD rs13181 was significantly associated with CM (odds ratio= 0.93, 95% CI: 0.87-0.99; p=0.019). | 25537294 | 2015 |
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0.080 | GeneticVariation | BEFREE | Data were suitable for meta-analysis only in the case of the XPD/ERCC2 SNP rs13181 (cases = 2308, controls = 3698) and demonstrated that the variant C allele is associated with increased melanoma risk (odds ratio = 1.12, 95% confidence interval = 1.03-1.21, P = 0.01; population attributable risk = 9.6%). | 19706646 | 2009 |