Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma

Daniela, Tomescu; Kavanagh, G.M.; Ha, Thomas; Campbell, Harry; Melton, David W.

doi:10.1093/carcin/22.3.403

Cited by 127 publications

(91 citation statements)

References 23 publications

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“…For the XRCC3 assay, LOH in a colorectal tumour sample is also shown. Normal tissue from the patient is CT, but the tumour is T. (Tomescu et al, 2001). A similar association for the XPD exons 6 and 23 polymorphisms has been found in some other, but not all, skin cancer studies (for a review, see Benhamou and Sarasin, 2002).…”

Section: Discussionsupporting

confidence: 66%

“…Amino-acid variants in NER genes are common in the general population (Shen et al, 1998) and some, such as the XPD exon 23 polymorphism, have been associated with reduced DNA repair capacity (Lunn et al, 2000;Qiao et al, 2002). We have reported a significant association between polymorphisms in exons 6, 22 and 23 of the XPD gene and melanoma in patients under 50 (Tomescu et al, 2001). Significant association between NER gene polymorphisms and other cancers, but not colorectal, have also been reported: glioma (Chen et al, 2000); lung (Chen et al, 2002;Park et al, 2002); squamous cell carcinoma of the head and neck (SCCHN; Sturgis et al, 2002).…”

mentioning

confidence: 62%

“…The patterns obtained for XPF exon 11, XPG exon 15, XRCC1 exon 17 and XRCC3 exon 7 are illustrated in Figure 1. The patterns for the XPD (exons 6, 22 and 23) and ERCC1 exon 4 polymorphisms have been described previously (Tomescu et al, 2001). For each polymorphism investigated in the control and patient groups, the observed genotype distributions were compared with the expected frequencies under the Hardy -Weinberg equilibrium.…”

Section: Resultsmentioning

confidence: 99%

“…Without detailed knowledge of XRCC3's roles in DNA repair, it is hard to evaluate the significance of such studies, or exclude a role for confounding factors. In the same way as we have done for XPD and melanoma (Tomescu et al, 2001), study of XRCC3 flanking markers will be required to rule out roles for linkage disequilibrium and population stratification in the association found.…”

Section: Discussionmentioning

confidence: 99%

“…Biopsy material, from cancerous and adjacent noncancerous tissue, was collected between 1994 and 1997 by Professor Andrew Wyllie for histology and DNA extraction. At the same time, control blood samples were selected entirely at random from donors to the Scottish National Blood Transfusion Service (mean age of donors is 42 years), and DNA was extracted as described (Tomescu et al, 2001).…”

Section: Subjectsmentioning

confidence: 99%

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Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer

et al. 2003

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Section: Discussionsupporting

confidence: 66%

mentioning

confidence: 62%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Subjectsmentioning

confidence: 99%

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Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer

et al. 2003

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Bisphosphonate resistance in Paget's disease of bone

Joshua

Epstein

Major

2003

Arthritis & Rheumatism

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Objective. To determine whether resistance to one bisphosphonate predicts resistance to another bisphosphonate.Methods. One hundred patients with Paget's disease were treated with intravenous (IV) pamidronate. The initial dose was 120 mg, followed by further doses of 240 mg, until either biochemical remission was achieved or a total dose of 1 gm was given. Biochemical remission was defined as an alkaline phosphatase level within the reference range. Patients whose disease failed to respond to pamidronate were then treated with alendronate for 6 months. Patients whose disease failed to respond to alendronate were given either tiludronate for 3 months, or clodronate for 6 months.Results. Sixteen of the 100 patients treated with pamidronate failed to achieve a biochemical response despite a cumulative dose of 1 gm. Of the 16 nonresponders, 1 died of an unrelated cause, and the remaining 15 patients were treated with alendronate. In 2 of these patients, the treatment was changed to another bisphosphonate because of gastrointestinal intolerance to alendronate. Of the remaining 13 patients, 9 (69%) achieved full biochemical remission. In 4 other patients, both pamidronate and alendronate therapy were unsuccessful (1 patient responded to tiludronate, tiludronate therapy was unsuccessful in 1, clodronate was unsuccessful in 1, and 1 patient elected to receive no further treatment). Of the 2 patients who could not receive alendronate because of gastrointestinal intolerance, 1 achieved normalization with tiludronate, and a repeat course of pamidronate was unsuccessful in the other. In total, 73% of patients in whom initial treatment with IV pamidronate was unsuccessful responded to a change in bisphosphonate treatment.Conclusion. Failure to achieve biochemical normalization is likely to be specific to the individual drug rather than indicative of bisphosphonate class resistance.Paget's disease is a disorder of bone resulting from accelerated bone turnover (1). The prevalence of Paget's disease varies geographically. In England and Wales, the prevalence was recently estimated to be 0.3% among men and women ages 55 years or older (2). Estimates from the 1970s of the prevalence of Paget's disease in Great Britain and western Europe are 5% and 2-4%, respectively (3).The most widely used treatments for Paget's disease are bisphosphonates. The bisphosphonates used as inhibitors of bone resorption are structural analogs of naturally occurring pyrophosphate-containing compounds. They all contain 2 phosphonate groups attached to a single carbon atom, forming a P-C-P structure. All bisphosphonates have the 2 phosphonate side chains that allow binding to the bone surface, but the side chains (R1 and R2) attached to the central carbon atom differ among bisphosphonates. The R1 side chain can help further with bone surface binding because of the presence of a hydroxyl group in this position. The R2 side chain is where the variations in potency of the different bisphosphonates occur. Bisphosphonates have been broadly divided into the fo...

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XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations

Wang

Liang

Spitz

et al. 2003

Cancer

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Computational fluid dynamics (CFD) simulation was applied to a photocatalytic reactor with surface reaction for trichloroethylene (TCE) oxidation at various pollutant concentrations, and flow rates. First‐order and Langmuir‐Hinshelwood kinetics for TCE removal rate were considered. The results were compared with those from experiments of Demeestere et al. (Appl Catal B Environ. 2004;54:261–274) in a flat plate photocatalytic reactor with serpentine geometry. The flow regime was laminar. Through the CFD simulation, the velocity field and the concentration gradient of TCE in the reactor were studied in detail. At Reynolds numbers around 900, the laminar flow becomes unstable. Under such a condition, when flow passes the 180° sharp turns, due to formation of secondary flow and consequently vortices, there is a lot of cross‐sectional mixing in the reactor. This kind of studies can help us to model the photocatalytic reactor as accurately as possible. © 2008 American Institute of Chemical Engineers AIChE J, 2009

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Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma

Cited by 127 publications

References 23 publications

Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer

Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer

Bisphosphonate resistance in Paget's disease of bone

XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations

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