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OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.

ABSTRACT: In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3'UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p < 0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3'UTR variant g.9798848G>A. Among intronic mutations, highest (~15 fold) increase in breast cancer risk was associated with g.9793680G>A (p < 0.009). Similarly ~14-fold increased risk was associated with Val159Gly (p < 0.01), ~17-fold with Gly221Arg (p < 0.005), and ~18-fold with Ser326Cys (p < 0.004) in breast cancer patients compared with controls, whereas analysis of nonsense mutation showed that ~13-fold (p < 0.01) increased breast cancer risk was associated with Trp375STOP in patients compared to controls. In conclusion, a significant association was observed between OGG1 germ line mutations and breast cancer risk. These findings provide evidence that OGG1 may prove to be a good candidate of better diagnosis, treatment, and prevention of breast cancer.

SUBMITTER: Ali K

PROVIDER: S-EPMC4452349 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.

Ali Kashif K Mahjabeen Ishrat I Sabir Maimoona M Mehmood Humera H Kayani Mahmood Akhtar MA

Disease markers 20150519

In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3'UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p < 0.001) increased (~29 fold) breast cancer risk was assoc ...[more]

PMID: 26089588

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Project description:BackgroundThe base excision repair (BER) pathway removes DNA damage caused by ionizing radiation, reactive oxidative species and methylating agents. OGG1 and APE1 are two important genes in the BER pathway. Many epidemiological studies have evaluated the association between polymorphisms in the two BER genes (OGG1 Ser326Cys and APE1 Asp148Glu) and breast cancer risk. However, the results are inconsistent.MethodsWe searched the electronic databases including PubMed, Embase and Cochrane library for all eligible studies for the period up to February 2014. Data were extracted by two independent authors and pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were used to assess the strength of the association.ResultsA total of 17 studies including 9,040 cases and 10,042 controls were available for OGG1 Ser326Cys polymorphism and 7 studies containing 2,979 cases and 3,111 controls were included for APE1 Asp148Glu polymorphism. With respect to OGG1 Ser326Cys polymorphism, we did not find a significant association with breast cancer risk when all eligible studies were pooled into the meta-analysis. However, in subgroup analyses by ethnicity and menopausal status, statistical significant increased breast cancer risk was found in Asian populations (Cys/Cys vs. Ser/Ser: OR=1.157, 95% CI 1.013-1.321, P=0.011; Cys/Cys vs. Ser/Cys+Ser/Ser: OR=1.113, 95% CI 1.009-1.227, P=0.014) and postmenopausal patients (Cys/Cys vs. Ser/Cys+Ser/Ser: OR=1.162, 95% CI 1.003-1.346, P=0.024). In subgroup analysis according to quality score, source of control, and HWE in controls, no any significant association was detected. With respect to APE1 Asp148Glu polymorphism, no significant association with breast cancer risk was demonstrated in the overall and stratified analyses.ConclusionsThe present meta-analysis suggests that the OGG1 Ser326Cys polymorphism may be a risk factor for breast cancer in Asians and postmenopausal patients. Further large and well-designed studies are needed to confirm this association.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1156934297124915.

Project description:Alcohol consumption is an established cause of female breast cancer. This systematic review examines in detail the association between alcohol and female breast cancer overall and among the described subgroups, using all of the evidence to date. A systematic review of PubMed and Embase was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The search included articles published up to November 15, 2023. Meta-analyses and regressions were performed for alcohol consumption of less than 1 standard drink (10 g of ethanol) per day and for a range of alcohol consumption categories in relation to breast cancer. Analyses by menopausal status, hormone receptor status, human epidermal growth factor receptor 2 status, and molecular subtype were performed. The search yielded 5645 publications, of which 23 publications of individual and pooled studies examined the association between overall alcohol consumption and breast cancer incidence. The meta-regression showed a positive association; relative risks (RR) of breast cancer were 1.05 (95% CI: 1.04, 1.06), 1.10 (95% CI: 1.08, 1.12), 1.18 (95% CI: 1.15, 1.21), and 1.22 (95% CI: 1.19, 1.25) for 0.5, 1, 2, and 3 standard drinks per day compared with nondrinking, respectively. A meta-analysis of nine studies indicated that for consumption of less than one standard drink per day, the RR estimate of breast cancer was 1.04 (95% CI: 1.01, 1.07) compared with nondrinking. Consumption of an additional 1 standard drink per day was associated with a higher risk of premenopausal (RR: 1.03 (95% CI: 1.01, 1.06)) and postmenopausal (RR: 1.10 (95% CI: 1.08, 1.12)) breast cancer. Alcohol consumption increases female breast cancer risk, even for women who consume one drink per day. Furthermore, alcohol consumption is associated with both pre- and postmenopausal breast cancer risk. These findings support evidence-based cancer prevention guidelines to reduce alcohol-related risks.

Project description:BackgroundThe magnitude of the benefit associated with screening has been debated. We present a meta-analysis of quasi-experimental studies on the effects of mammography screening.MethodsWe searched MEDLINE/PubMed and Embase for articles published through January 31, 2013. Studies were included if they reported: 1) a population-wide breast cancer screening program using mammography with 5+ years of data post-implementation; 2) a comparison group with equal access to therapies; and 3) breast cancer mortality. Studies excluded were: RCTs, case-control, or simulation studies. We defined quasi-experimental as studies that compared either geographical, historical or birth cohorts with a screening program to an equivalent cohort without a screening program. Meta-analyses were conducted in Stata using the metan command, random effects. Meta-analyses were conducted separately for ages screened: under 50, 50 to 69 and over 70 and weighted by population and person-years.ResultsAmong 4,903 published papers that were retrieved, 19 studies matched eligibility criteria. Birth cohort studies reported a significant benefit for women screened <age 50, but not for women screened ages 50-69. Significant reductions in breast cancer mortality were observed in historical comparisons. For geographical comparisons, there was a significant 20% reduction in mortality for women <age 50 and a significant 21-22% reduction for women ages 50-69. Studies that tested the interaction of geographical and historical comparisons produced a pooled, significant 13-17% reduction in incident breast cancer mortality for women ages 50-69, but the effects in most individual studies were non-significant. All studies of women ages 70+ were non-significant.ConclusionsMammography screening may have modest effects on cancer mortality between the ages of 50 and 69 and non-significant effects for women older than age 70. Results are consistent with meta-analyses of RCTs. Effects on total mortality could not be assessed because of the limited number of studies.

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OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.

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OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.

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