|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the ERCC2 Asp312Asn polymorphism is associated with bladder, esophageal, and gastric cancers, but not with breast, head and neck, lung, prostate, and skin cancers, and non-Hodgkin lymphoma.
|
28489582 |
2017 |
|
Malignant neoplasm of skin
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, GSTs, EPHX1, and XPD are potential genetic factors for arsenic-induced skin cancers.
|
26295053 |
2015 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For the XPD Asp312Asn polymorphism, no significant association with skin cancer risk was observed in overall or subgroup analyses.
|
25169498 |
2014 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele.
|
19934020 |
2009 |
|
Malignant neoplasm of skin
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer.
|
18470933 |
2008 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Since TFIIH is a repair/transcription factor, TTD-specific alterations of TFIIH possibly result in transcriptional defects, which might be implication for the lack of increased incidence of skin cancers in TTD patients.
|
18817897 |
2008 |
|
Malignant neoplasm of skin
|
0.400 |
Biomarker
|
disease |
CTD_human |
Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations.
|
17050553 |
2007 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest these two XPD nonsynonymous polymorphisms may be associated with skin cancer risk, especially for melanoma.
|
15941969 |
2005 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The nucleotide excision repair enzyme encoded by the excision repair cross-complementing group 2 gene ERCC2 (formerly XPD) known to cause skin cancer by germ line mutations has multiple regulatory cellular functions, including nucleotide excision repair, basal transcription, cell cycle control, and apoptosis.
|
15598761 |
2004 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent molecular epidemiological studies have identified polymorphisms in the XPD gene that are associated with increased risk of brain gliomas and head, neck, lung, and skin cancers.
|
11606376 |
2001 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
|
11710928 |
2001 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rare XPD mutations diminish nucleotide excision repair resulting in hypersensitivity to UV light and increased risk of skin cancer.
|
10753184 |
2000 |
|
Malignant neoplasm of skin
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene.
|
10416615 |
1999 |