Re: Markers of DNA Repair and Susceptibility to Cancer in Humans: an Epidemiologic Review

Hemminki, Kari; Curieux, Frank Le

doi:10.1093/jnci/92.18.1536

Cited by 9 publications

(2 citation statements)

References 6 publications

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“…Transient binding of ADPRT to DNA breaks may serve a signaling role to initiate DNA repair reactions by recruiting other proteins (36). Previous studies showed that the activity of ADPRT in mononuclear leukocytes was significantly different between cancer patients and health controls, suggesting that its activity might affect the susceptibility to cancers (37). In the present study, we found that an increased risk of ESCC was associated with the ADPRT nonsynonymous SNP (Val762Ala), which is located in the sixth helix of catalytic regulatory domain.…”

Section: Discussionmentioning

confidence: 99%

Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma

et al. 2004

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The etiology of esophageal squamous cell carcinoma (ESCC) has been shown to be associated with genetic and certain environmental factors that produce DNA damage. Base excision repair (BER) genes are responsible for repair of DNA damage caused by reactive oxygen species and other electrophiles and therefore are good candidate susceptibility genes for ESCC. We first screened eight BER genes for new and potential functional polymorphisms by resequencing 27 DNA samples. We then identified and genotyped for important tagging single nucleotide polymorphisms (SNPs) in a case-control study of 419 patients with newly diagnosed esophageal cancer and 480 healthy controls by frequency matching on age and sex. The association between genotypes and ESCC risk was estimated by unconditional multivariate logistic regression analysis, and stepwise regression procedure was used for constructing the final logistic regression model. We identified 129 SNPs in the eight BER genes, including 18 SNPs that cause amino acid changes. In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. The adjusted odd ratios were 1.25 [95% confidence interval (CI) 1.02-1.53] for the ADPRT 762Ala allele, 1.25 (95% CI 1.02-1.53) for the MBD4 346 Lys allele, 0.78 (95% CI 0.63-0.97) for the LIG3 3704G allele, and 1.38 (95% CI 1.01-1.89) for the XRCC1-77C allele. In addition, we observed a significant gene-gene interaction between XRCC1 Gln399Arg and ADPRT Val762Ala. The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.

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Section: Discussionmentioning

confidence: 99%

Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma

et al. 2004

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“…The mechanism by which a cell of one type can provide information about the response of a cell of another type to genotoxic stress is controversial (Baria et al, 2000; Berwick et al, 2000; Hemminki et al, 2000; Dornfeld et al, 2001; Nersesyan, 2002). Peripheral lymphocytes from patients who developed a variety of solid tumors displayed a higher frequency of DNA damage than did lymphocytes from normal healthy volunteers when exposed to genotoxic stress ex vivo (Berwick et al, 2000; Shadan et al, 2000; Baria et al, 2001; Buchholz et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

Lymphoid gene expression as a predictor of risk of secondary brain tumors

Edick

Cheng

Yang

et al. 2004

Genes Chromosomes & Cancer

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Gene expression profiles are tissue-specific but may also reflect germ-line-driven expression patterns across tissue types. Previously, using a targeted pharmacologic approach, we identified germ-line polymorphisms in a single gene (thiopurine methyltransferase) associated with the risk of irradiation- and chemotherapy-induced secondary brain tumors in children with acute lymphoblastic leukemia (ALL). To identify additional candidate genetic risk factors, in identically treated patients, we compared the gene expression profiles of diagnostic ALL blasts of those who did develop irradiation-associated brain tumors (n = 9) with the profiles from those who did not (n = 33). Weighted rank regression was used to identify 33 probe sets associated with the time-dependent development of brain tumors; k-means clustering (k = 2) identified 2 groups that differed significantly in cumulative incidence of brain tumors (P = 0.012). Permutation analysis was used to estimate the probability (P = 0.18) of obtaining 2 such clusters by chance. Linear discriminant analysis (time-independent categorization of outcome) was used to identify 70 probe sets whose expression differentiated between the 2 groups of patients. Permutation analyses (n = 1,000) was used to estimate the probability of selecting these probe sets by chance (P = 0.055). Five probe sets were in common between the time-independent and time-dependent methods. The distinguishing genes are involved in neural growth (FGFR1) and in nuclear trafficking (HNRPL, KPNB1). These data suggest that gene expression profiling from accessible tissues may identify targets involved in therapy-related malignancies in unrelated tissues.

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Highly Altered Protein Expression Profile in the Adriamycin Resistant MCF-7 Cell Line

2003

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The protein expression pattern in the cytosol fraction of the adriamycin resistant MCF-7 cell line (MCF-7/ADR) was compared to that of the parental MCF-7 cell line using two-dimensional gel electrophoresis and mass spectrometry. Twenty proteins with altered abundances were identified and studied in MCF-7/ADR. Both up regulation and down regulation are characterized. The most striking differences were found for proteins that were uniquely expressed in this cell line and not detectable in the parental MCF-7 cell line. These proteins include annexin I, the neuronal ubiquitin carboxyl hydrolase isoenzyme L-1 (also known as PGP9.5), glutathione-S-transferase pi class, nicotinamide N-methyltransferase, and interleukin-18 precursor. On the other hand, catechol-O-methyltransferase was expressed in the parental cell line, but was not detected in the adriamycin resistant cell line. This protein expression pattern was unique to MCF-7/ADR and not observed in MCF-7 cell lines selected for resistant to etoposide, mitoxantrone or melphalan.

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Re: Markers of DNA Repair and Susceptibility to Cancer in Humans: an Epidemiologic Review

Cited by 9 publications

References 6 publications

Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma

Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma

Lymphoid gene expression as a predictor of risk of secondary brain tumors

Highly Altered Protein Expression Profile in the Adriamycin Resistant MCF-7 Cell Line

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