Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma

Xu, Li; Doan, Phi C.; Wei, Qingyi; Li, Guojun

doi:10.1016/j.oraloncology.2012.03.012

Cited by 5 publications

(3 citation statements)

References 35 publications

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“…Based on the inclusion and exclusion criteria, 19 articles remained [ 14 – 32 ]. One article containing data regarding various types of cancer was treated as independent studies [ 14 ], and there were seven articles containing studies of various BRCA1 polymorphisms [ 14 , 16 , 17 , 21 , 22 , 24 , 27 ]. Altogether, 35 studies contained in 19 articles involving 28,094 cases and 50,657 controls were included in this meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Zhao

Wang

et al. 2018

Oncotarget

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Many studies have reported that BRCA1 polymorphisms are associated with cancer risk, but the results remain controversial. The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. Relevant studies were identified via a systematic search of the PubMed, Embase, and Web of Science databases up to July 31, 2017. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to examine the strength of the associations. Thirty-five studies published in 19 publications involving 28,094 cases and 50,657 controls were included in this meta-analysis. There was no obvious association between rs799917, rs1799966, or rs16941 polymorphisms and overall cancer risk in any genetic models. However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models. Our meta-analysis also indicated that rs1799950 could decrease the breast cancer (BC) risk among Caucasian populations in the homozygote and recessive models. In summary, our results suggest that BRCA1 polymorphisms may play an important role in the etiology of cancer. However, due to the limited number of studies, these findings should be confirmed by new studies with larger sample sizes that address various types of cancer.

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Section: Resultsmentioning

confidence: 99%

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Zhao

Wang

et al. 2018

Oncotarget

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“… ( Top ) Quantile‐quantile (QQ) plot and ( Bottom ) Manhattan plot of the genome‐wide P values in ‐log scale of association between individual single‐nucleotide polymorphisms and salivary gland carcinomas in non‐Hispanic white individuals. The vertical line in the bottom panel indicates the genome‐wide significance threshold after the Bonferroni correction.…”

Section: Resultsmentioning

confidence: 99%

Retracted: Genome‐wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes

Tang

Chen

et al. 2015

Cancer

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BACKGROUND Salivary gland carcinomas (SGCs) are a rare malignancy with unknown etiology. We aimed to identify genetic variants modifying risk of SGC and its major subtypes, adenoid cystic carcinoma (ACCA) and mucoepidermoid carcinoma (MECA). METHODS We conducted a genome-wide association study in 309 well-defined SGC cases and 535 cancer-free controls. We performed a SNP-level discovery study in non-Hispanic whites followed by a replication study in Hispanics. A logistic regression was applied to calculate odds ratios (ORs) and 95% confidence intervals (95%CIs). A meta-analysis was conducted of the results. RESULTS Genome-wide significant association with SGC in non-Hispanic whites was detected at coding SNPs in CHRNA2 (OR=8.55, 95%CI: 4.53–16.13, P = 3.6 × 10−11), OR4F15 (OR=5.26, 95%CI: 3.13–8.83, P = 3.5 × 10−10), ZNF343 (OR=3.28, 95%CI: 2.12–5.07, P = 9.1 × 10−8), and PARP4 (OR=2.00, 95%CI: 1.54–2.59, P = 1.7 × 10−7). Meta-analysis of the non-Hispanic white and Hispanic cohorts identified another genome-wide significant SNP in ELL2 (meta-OR=1.86, 95%CI: 1.48–2.34, P = 1.3 × 10−7). Risk alleles largely enriched in MECA, where the SNPs in CHRNA2, OR4F15, and ZNF343 had ORs of 15.71 (95%CI: 6.59–37.47, P = 5.2 × 10−10), 15.60 (95%CI: 6.50–37.41, P = 7.5 × 10−10), and 6.49 (95%CI: 3.36–12.52, P = 2.5 × 10−8), respectively. None of these SNPs retained significant association with ACCA. CONCLUSIONS These findings, for the first time, identify a panel of SNPs associated with SGC risk. Confirmation of these findings along with functional analysis of identified SNPs are needed.

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“…This case-control study was conducted at The University of Texas MD Anderson Cancer Center as previously described [14] . The study was approved by the Institutional Review Board, and informed consent was obtained from all participants prior to enrollment.…”

Section: Methodsmentioning

confidence: 99%

Genetic Variation in MDM2 and p14ARF and Susceptibility to Salivary Gland Carcinoma

Jin

Song

et al. 2012

PLoS ONE

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BackgroundThe p14ARF/MDM2/p53 pathway plays an important role in modulation of DNA damage and oxidative stress responses. The aim of this study was to determine whether genetic variants in MDM2 and p14ARF are associated with risk of salivary gland carcinoma (SGC).MethodsFour single nucleotide polymorphisms (SNPs) in MDM2 and p14ARF (MDM2-rs2279744, MDM2-rs937283, p14ARF-rs3731217, and p14ARF-rs3088440) were genotyped in 156 patients with SGC and 511 cancer-free controls. Multivariate logistic regression analysis was performed to calculate odds ratios (ORs) and 95% confidence intervals (CIs).Results MDM2-rs2279744 was significantly associated with a moderately increased risk of SGC (OR, 1.5, 95% CI, 1.1–2.2). There was a trend toward significantly increased SGC risk with increasing number of risk genotypes of the four polymorphisms (P trend = 0.004). Individuals carrying 3–4 risk genotypes in MDM2 and p14ARF were at increased SGC risk (OR, 2.0, 95% CI, 1.1–2.7) compared with individuals carrying 0–2 risk genotypes. Moreover, the combined effect of risk genotypes of MDM2 and p14ARF was more pronounced among young subjects (≤45 years), female subjects, subjects with race/ethnicity other than non-Hispanic white, ever-smokers, and ever-drinkers.ConclusionOur results support the involvement of SNPs of MDM2 and p14ARF, either alone or more likely in combination, in susceptibility to SGC. Larger studies are needed to validate our findings.

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Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma

Cited by 5 publications

References 35 publications

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

The association between BRCA1 gene polymorphism and cancer risk: a meta-analysis

Retracted: Genome‐wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes

Genetic Variation in MDM2 and p14ARF and Susceptibility to Salivary Gland Carcinoma

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