Genetic Polymorphisms in Base-Excision Repair Pathway Genes and Risk of Breast Cancer

Zhang, Yawei; Newcomb, Polly A.; Egan, Kathleen M.; Titus-Ernstoff, Linda; Chanock, Stephen; Welch, Robert; Brinton, Louise A.; Lissowska, Jolanta; Bardin-Mikolajczak, Alicja; Pepłońska, Beata; Szeszenia-Da̧browska, Neonila; Zatoński, Witold; García-Closas, Montserrat

doi:10.1158/1055-9965.epi-05-0653

Cited by 134 publications

(110 citation statements)

References 21 publications

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“…APE1 Asp148Glu variants are the most common APE1 polymorphisms identified in the general population that result in a single amino acid substitution (Hung et al, 2005). Zhang et al (2006) found no association between the APE1 Asp148Glu variant and breast cancer risk among non-Hispanic white Americans, whereas Suleeporn et al (2008) reported a significant protective effect of the APE1 148Glu allele in Thai women. Subsequently, a meta-analysis of the APE1 Asp148Glu polymorphism , which included 5 studies with a total of 2,539 breast cancer patients and 2,572 control subjects, showed no obvious association between APE1 148Glu and breast cancer (Wu et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Luo¹,

Li²,

Qu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Altered DNA repair capacity can result in increased susceptibility to cancer. The base excision repair (BER) pathway effectively removes DNA damage caused by ionizing radiation and reactive oxidative species (ROS). In the current study, we analyzed the possible relation of polymorphisms in BER genes, including 8-oxoguanine DNA glycosylase (OGG1), apurinic/apyrimidinic endonuclease 1 (APE1), and X-ray repair cross-complementing group 1 protein (XRCC1), with breast cancer risk in Chinese Han women. This case-control study examined 194 patients with breast cancer and 245 cancer-free hospitalized control subjects. Single nucleotide polymorphisms (SNPs) of OGG1 (Ser326Cys), XRCC1 (Arg399Gln), and APE1 (Asp148Glu and -141T/G) were genotyped and analyzed for their association with breast cancer risk using multivariate logistic regression models. We found that XRCC1 Arg399Gln was significantly associated with an increased risk of breast cancer. Similarly, the XRCC1 Gln allele was significantly associated with an elevated risk in postmenopausal women and women with a high BMI (≥ 24 kg/m 2 ). The OGG1 Cys allele provided a significant protective effect against developing cancer in women with a low BMI (< 24 kg/m 2 ). When analyzing the combined effects of these alleles on the risk of breast cancer, we found that individuals with ≥ 2 adverse genotypes (XRCC1 399Gln, APE1 148Asp, and OGG1 326Ser) were at a 2.18-fold increased risk of breast cancer (P = 0.027). In conclusion, our data indicate that Chinese women with the 399Gln allele of XRCC1 have an increased risk of breast cancer, and the combined effects of polymorphisms of BER genes may contribute to tumorigenesis.

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Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Luo¹,

Li²,

Qu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…Base excision repair (BER) is a highly conserved essential mechanism for maintaining genome integrity. Impaired BER function can give rise to the accumulation of 8-OHG lesion and other DNA base lesions, which may influence the initiation and progression of cancer (28). OGG1 is a key enzyme in short-patch BER because it recognises and performs initial excision of the most common form of oxidative DNA base damage, 8-OHG (29).…”

Section: Discussionmentioning

confidence: 99%

The Association of OGG1 Ser326Cys Polymorphism and Urinary 8-OHdG Levels With Lung Cancer Susceptibility: A Hospital-Based Case-Control Study in Turkey

Karahalıl

Emerce

Koçer

et al. 2008

Archives of Industrial Hygiene and Toxicology

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High incidence and poor prognosis of lung cancer make it a major health problem worldwide. Although smoking is a major cause of lung cancer, only some smokers develop lung cancer, which suggests that there is a genetic predisposition in some individuals. 8-OHG is an important oxidative base lesion and may elevate due to cancer and smoking. It is repaired by 8-hydroxyguanine DNA glycosylase 1 (OGG1), which has several polymorphisms. Although the Ser326Cys polymorphism is consistently associated with a range of cancers, findings about this polymorphism and lung cancer risk are contradictory. To date, no study has examined this association in the Turkish population. We conducted a case-control study to investigate the association between OGG1 Ser326Cys polymorphism and the risk of lung cancer using PCR-RFLP. We also evaluated gene-smoking interaction and excretion of urinary 8-OHdG. Our results suggest that the OGG1 Ser326Cys polymorphism is not a genetic risk factor for lung cancer, and that the heterozygous genotype is associated with a significantly reduced risk for lung cancer. The levels of 8-OHdG did not correlate with the polymorphism and smoking. Larger association studies are needed to validate our findings, and mechanistic studies are needed to elucidate the underlying molecular mechanisms of this association.

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“…7 It is known that mutations in mismatch-repair genes increase susceptibility to cancer in organs other than the colon, but former data published regarding a possible association between MutYH mutations and breast cancer risk are conflicting. [8][9][10][11][12][13][14] We studied the prevalence of the 2 commonly described founder mutations in MutYH, a glycine-to-aspartic acid substitution at codon 396 (G396D) and a tyrosine-to-cysteine substitution at codon 179 (Y179C), in a case-control study of breast cancer that was restricted to Sephardi Jews in whom we noted a high prevalence of these mutations (unpublished results).…”

Section: Introductionmentioning

confidence: 99%

MutYH mutation carriers have increased breast cancer risk

Rennert

Lejbkowicz

Cohen

et al. 2011

Cancer

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BACKGROUND: Variants of the mutY homolog gene MutYH, a DNA repair gene, are associated with increased risk of colorectal cancer; however, it remains unclear whether these variants also are associated with the risk of other cancers. The authors studied the risk of breast cancer associated with MutYH variants in a unique ethnic group of Sephardi Jews in Israel with a high prevalence of MutYH mutations. METHODS: The study participants were 930 Sephardi Jewish women of North African origin who were recruited into the population-based case-control Breast Cancer in Northern Israel Study (BCINIS) either as breast cancer cases or as healthy controls. All participants contributed a blood sample and completed an interview. Two MutYH variants, a glycine-to-aspartic acid substitution at codon 396 (G396D) and a tyrosine-to-cysteine substitution at codon 179 (Y179C), were studied. RESULTS: In the Sephardi Jews, among the healthy controls, 20 women (3.7%) were homozygote or heterozygote carriers of the G396D variant, and 4 women (0.7%) were heterozygote carriers of the Y179C variant. Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P ¼ .039). The tumors detected in carriers with MutYH variants were similar in characteristics to those without MutYH variants, as was the age at diagnosis. CONCLUSIONS: Carriers of variants in MutYH, although not very common, may have an increased risk of breast cancer in Jews of North African origin. Identification of such carriers and special surveillance protocols may be warranted. Cancer 2012;118:1989-

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Genetic Polymorphisms in Base-Excision Repair Pathway Genes and Risk of Breast Cancer

Cited by 134 publications

References 21 publications

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

The Association of OGG1 Ser326Cys Polymorphism and Urinary 8-OHdG Levels With Lung Cancer Susceptibility: A Hospital-Based Case-Control Study in Turkey

MutYH mutation carriers have increased breast cancer risk

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