Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 subjects

Qin, Tingting; Chen, Tao; Zhang, Qian; Du, Haina; Shu, Yongqian; Luo, Kai; Zhu, Lingjun

doi:10.1016/j.biopha.2014.08.006

Cited by 12 publications

(13 citation statements)

References 36 publications

(39 reference statements)

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“…In the subgroup analyses by cancer type, we found that there was no significant association between rs799917 polymorphism and breast cancer risk either in the overall population or in the Caucasian, Asian, or other populations (Table 3 and Figure 2 ), which is consistent with previous reports [ 33 ]. There were eight studies included in our meta-analysis regarding rs799917 polymorphism and the risk of non-breast cancer.…”

Section: Resultssupporting

confidence: 91%

“…In the meta-analysis, we revealed that rs799917 polymorphism could decrease the risk of several types of non-breast cancer. Thus, this study and previous studies have shown that rs799917 is not associated with the risk of BC [ 33 ]. Zhang et al reported that there were significantly lower BRCA1 mRNA levels among subjects with the rs799917 CC genotype than among those with the CT or TT genotypes in normal and cancerous esophageal tissues [ 25 ], which could explain why the risk of ESCC is lower among rs799917 T carriers.…”

Section: Discussionsupporting

confidence: 58%

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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: Resultssupporting

confidence: 91%

Section: Discussionsupporting

confidence: 58%

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

Zhao

Wang

et al. 2018

Oncotarget

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“…And even the same kind of cancer, the results were conflicting [18,27]. A meta-analysis conducted in 2014 including 7392 cases and 12486 controls observed no significant association between P871L and breast cancer risk [31]. Our meta-analysis with more subjects found no evidence of association between P871L and breast cancer risk either.…”

Section: Discussionmentioning

confidence: 64%

Association between BRCA1 P871L polymorphism and cancer risk: evidence from a meta-analysis

Miao

et al. 2017

Oncotarget

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Breast cancer 1 (BRCA1) gene makes great contributions to the repair of DNA. The association between BRCA1 P871L polymorphism and cancer risk has been investigated in a growing number of studies, but the conclusions are not conclusive. To obtain a comprehensive conclusion, we performed a meta-analysis of 24 studies with 13762 cases and 22388 controls. The pooled results indicated that BRCA1 gene P871L variant decreased risk of overall cancer (homozygous model: odds ratio (OR) = 0.89, 95%confidence interval (CI) = 0.79-1.00; recessive model: OR = 0.89, 95% CI = 0.80-0.99). The stratified analysis observed decreased risk associated with BRCA1 P871L in subgroups among Asians and high score studies, but not Caucasians or low score studies. In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer.

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“…In turn, this leads to significant downregulation of BRCA1 expression among C allele carriers of rs799917, leading to increased risk of developing breast cancer. However, a meta analysis of 19,878 subjects by Qin et al [ 3 ] reported that the BRCA1 :rs799917 variant was not associated with breast cancer risk. Further studies are required to validate our findings.…”

Section: Discussionmentioning

confidence: 99%

“…Sporadic breast cancer is caused by a combination of environmental and genetic factors. Previous studies have shown that multiple genetic, epidemiological, and epigenetic factors contribute to its etiology [ 3 ]. For most sporadic breast cancers, a significant proportion of the risk is due to multiple low-penetrance susceptibility alleles [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

et al. 2018

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PurposeSeveral single nucleotide polymorphisms (SNPs) have been reported to be associated with clinicopathological profiles in sporadic breast cancer based on studies conducted on major population groups. The knowledge of the effects of these common genetic variants in South Asian populations remains limited. The present study aimed to investigate the association between a selected set of SNPs and the clinicopathological profiles in sporadic breast cancer in Sri Lankan women.MethodsA total of 350 postmenopausal women with histologically confirmed invasive breast cancer were genotyped for 58 SNPs located in 36 breast cancer related genes. The clinicopathological factors that were investigated included age of onset, tumor histologic grade, and lymph node involvement, as well as estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor 2 (HER2) status. Association testing was performed using logistic regression models adjusted for confounding factors.ResultsSeven SNPs showed significant associations with clinicopathological profiles in breast cancer. The G allele of BRCA1:rs799917 (p=0.047; β [standard error; SE]=−1.069 [0.537]) and the G allele of NQO2:rs17136117 (p=0.040, β [SE]=1.901 [0.923]) were found to be associated with age of onset between 50 and 59 years. The C allele of CDH1:rs13689 (odds ratio [OR], 2.121; p=0.033) was found to be associated with ER-positive breast cancer. The A allele of AKT1:rs1130214 (OR, 2.095; p=0.011) and the C allele of NQO2:rs2071002 (OR, 1.632; p=0.045) were associated with HER2-positive breast cancer. The C allele of BRCA2:rs15869 (OR, 1.600; p=0.041) and the C allele of CCND1:rs7177 (OR, 1.555; p=0.041) were associated with high tumor histologic grade.ConclusionThe common genetic variants identified in the AKT1, BRCA1, BRCA2, CCND1, CDH1, and NQO2 genes could serve as potential clinical and prognostic biomarkers in sporadic breast cancer patients. Further studies are required to validate our current findings in other populations.

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Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 subjects

Cited by 12 publications

References 36 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

Association between BRCA1 P871L polymorphism and cancer risk: evidence from a meta-analysis

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

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