Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation BEFREE We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC). 9950243

1999

dbSNP: rs13181
rs13181
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.030 GeneticVariation BEFREE We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC). 9950243

1999

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE We conclude that XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to platinum-based chemotherapy. 11751380

2001

dbSNP: rs13181
rs13181
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation BEFREE We have previously reported that two polymorphisms in the gene, one silent mutation in codon 156 of exon 6 and one giving rise to a Lys-->Gln substitution in codon 751 of exon 23, showed signs of being associated with basal cell carcinoma in a Scandinavian study group of psoriasis patients and non-psoriatics with and without basal cell carcinoma [Dybdahl, Vogel, Frentz, Wallin and Nexø (1999) Cancer Epidemiol.Biomark.Prev., 8, 77-81]. 11375896

2001

dbSNP: rs13181
rs13181
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.030 GeneticVariation BEFREE We have previously reported that two polymorphisms in the gene, one silent mutation in codon 156 of exon 6 and one giving rise to a Lys-->Gln substitution in codon 751 of exon 23, showed signs of being associated with basal cell carcinoma in a Scandinavian study group of psoriasis patients and non-psoriatics with and without basal cell carcinoma [Dybdahl, Vogel, Frentz, Wallin and Nexø (1999) Cancer Epidemiol.Biomark.Prev., 8, 77-81]. 11375896

2001

dbSNP: rs13181
rs13181
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE Previous studies suggested that suboptimal DNA repair capacity is associated with cancer risk and that the Asp312Asn and Lys751Gln polymorphisms in the xeroderma pigmentosum complementary group D (XPD) gene may influence DNA repair capacity. 12399122

2002

dbSNP: rs13181
rs13181
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 GeneticVariation BEFREE Previous studies suggested that suboptimal DNA repair capacity is associated with cancer risk and that the Asp312Asn and Lys751Gln polymorphisms in the xeroderma pigmentosum complementary group D (XPD) gene may influence DNA repair capacity. 12399122

2002

dbSNP: rs13181
rs13181
Squamous cell carcinoma of esophagus
0.040 GeneticVariation BEFREE Neither Asp312Asn nor Lys751Gln polymorphisms in the XPD gene influenced risk of ESCC in our study. 12124811

2002

dbSNP: rs13181
rs13181
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE No association was found between p53 mutations and either XPD Lys751Gln or XRCC1 Arg399Gln. 12844488

2003

dbSNP: rs13181
rs13181
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs13181
rs13181
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs13181
rs13181
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Among men, carriers of the variant allele of XPD Lys751Gln</span> had a non-significantly increased risk of lung cancer</span> in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194

2004

dbSNP: rs13181
rs13181
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465

2004

dbSNP: rs13181
rs13181
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Among men, carriers of the variant allele of XPD Lys751Gln</span> had a non-significantly increased risk of lung cancer</span> in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194

2004

dbSNP: rs13181
rs13181
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465

2004

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects. 14735199

2004

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE To determine whether the XRCC1 (codon Arg399Gln) and XPD (codon Asp312Asn and codon Lys751Gln) polymorphisms are associated with prostate cancer susceptibility, we genotyped these polymorphisms in a primarily Caucasian sample of 506 sibships (n = 1,117) ascertained through a brother with prostate cancer. 14744728

2004

dbSNP: rs13181
rs13181
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Among men, carriers of the variant allele of XPD Lys751Gln</span> had a non-significantly increased risk of lung cancer</span> in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194

2004

dbSNP: rs13181
rs13181
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE ERCC2 polymorphisms ERCC2_6540_G>A (Asp(312)Asn) and ERCC2_18880_A>C (Lys(751)Gln) within the coding region of this evolutionarily highly conserved gene have been of functional relevance and therefore are potential candidates to confer breast cancer susceptibility. 15598761

2004

dbSNP: rs13181
rs13181
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465

2004

dbSNP: rs13181
rs13181
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln). 15459223

2004

dbSNP: rs13181
rs13181
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE In a case-cohort study, we have investigated the occurrence of lung cancer in relation to a high-risk haplotype, previously identified for breast cancer among post-menopausal women, and in relation to the closely linked polymorphisms XPD Asp312Asn and Lys751Gln. 14757194

2004

dbSNP: rs13181
rs13181
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE ERCC2 polymorphisms ERCC2_6540_G>A (Asp(312)Asn) and ERCC2_18880_A>C (Lys(751)Gln) within the coding region of this evolutionarily highly conserved gene have been of functional relevance and therefore are potential candidates to confer breast cancer susceptibility. 15598761

2004

dbSNP: rs13181
rs13181
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE When the polymorphisms in XPD Asp312Asn and Lys751Gln were mutually adjusted, XPD Asp312Asn was not associated with increased risk of cancer. 14757194

2004