scholarly journals LRRC3B Polymorphisms Contributed to Breast Cancer Susceptibility in Chinese Han Population

2021 ◽  
Vol 11 ◽  
Author(s):  
Yuxin Wang
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Suppressor Gene ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Ki 67 ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Lower Expression

PurposeLRRC3B gene, as a tumor suppressor gene was involved in the development and progress of breast cancer (BC). However, the effect of LRRC3B polymorphisms on BC has rarely been reported. In the study, we aimed to evaluate the relation between LRRC3B variants and BC risk.MethodsAmong 563 BC patients and 552 healthy controls, ten single-nucleotide polymorphisms (SNPs) in LRRC3B were genotyped by Agena MassARRAY. Odds ratios (ORs) and 95% confidence interval (CI) were calculated using logistic regression model.ResultsOur study demonstrated that rs1907168 polymorphism (heterozygous: OR = 0.71, p = 0.017) was related to the reduced risk of BC in the overall. In stratified analyses by age, rs1907168 was associated with the decreased (heterozygous: OR = 0.53, p = 0.002) while rs78205284 (homozygote: OR = 2.83, p = 0.034) increased BC susceptibility among the population at age ≤51 years. Rs6551122 (recessive: OR = 0.51, p = 0.028) and rs12635768 (homozygote, OR = 0.36, p = 0.023) polymorphisms were related to the smaller BC tumor size (<2 cm). In addition, rs112276562 (heterozygote OR = 0.56, p = 0.002), rs6551122 (heterozygote OR = 0.63, p = 0.016), and rs73150416 (heterozygote OR = 0.57, p = 0.005) variants contributed to the lower incidence of PR-positive BC. Moreover, rs6788033 was associated with a lower expression level of Ki-67 (log-additive: OR = 0.68, p = 0.024). Furthermore, we found an association of ‘GATT’ haplotype with an increased risk for BC. In addition, LRRC3B gene was down-regulated in BC tumor and had a poor prognosis in BC in in silico analysis.ConclusionOur study firstly found LRRC3B SNPs contributed to the risk of BC, suggesting LRRC3B variants might help to predict BC progression.

scholarly journals LRRC3B polymorphisms contributed to breast cancer susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Tianbo Jin ◽  
Linna Peng ◽  
Shishi Xing ◽  
Dandan Li ◽  
Chunjuan He ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Poor Prognosis ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Suppressor Gene ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
The Status

Abstract Purpose LRRC3B gene, as a tumor suppressor gene was involved in the development and progress of breast cancer (BC). However, the effect of LRRC3B polymorphisms on BC has rarely been reported. In the study, we aims to evaluate the relation between LRRC3B variants and BC risk. Methods Among 563 BC patients and 552 healthy controls, ten single-nucleotide polymorphisms (SNPs) in LRRC3B were genotyped by Agena MassARRAY. Odds ratios (OR) and 95% confidence interval (CI) was calculate using logistic regression model. Results Our study demonstrated that rs1907168 polymorphism (OR = 0.71, p = 0.017) reduced the risk of BC in the overall. In stratified analyses by age, rs1907168 decreased (OR = 0.53, p = 0.002) while rs78205284 (OR = 2.83, p = 0.034) increased BC susceptibility among the population at age ≤ 51 years. Clinical parameters such as tumor size, the status of PR and Ki67 were associated with LRRC3B variants. Furthermore, we found that the association of ‘GATT’ haplotype with an increased risk for BC. In addition, LRRC3B gene was down-regulated in BC tumor and had a poor prognosis in BC in silico analysis. Conclusion Our study firstly found LRRC3B SNPs contributed to the risk of BC, suggesting LRRC3B variants might help to predict BC progression.

Association of single-nucleotide polymorphisms of USP7 gene with breast cancer suscepbility in Chinese women.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 27-27
Author(s):  
Huangang Jiang ◽  
Fuxiang Zhou ◽  
You Wang ◽  
Yuehua Wei ◽  
Hui Xu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Second Stage

27 Background: The tumor suppressor p53 pathway plays a crucial role in preventing carcinogenesis. It was reported that activity of p53 was regulated by USP7 (Ubiquitin Specific Peptidase 7) and TSPYL5 (Testis-specific Y-encoded-like protein 5). This study was carried out to assess the association between single nucleotide polymorphisms (SNPs) in P53, USP7, TSPYL5 genes and the breast cancer susceptibility in Chinese Han women. Methods: DNA was extracted from the peripheral blood samples of breast cancer patients and age-matched controls. In the first stage, tag SNPs of P53, USP7, and TSPYL5 genes were selected with Hapmap database and Haploview program. The matrix-assisted laser desorption/ionization time-of-flight mass spectrometry assay was used for genotyping. Then, two positive SNPs were determined by polymerase chain reaction- restricted fragment length polymorphisms assay (PCR-RFLP) in the second stage. The ethics committee of Zhongnan Hospital of Wuhan University authorized this study. Results: In the first stage, 23 SNPs were selected and detected in 192 cases and 192 controls. The results demonstrated that the distribution of genotype of rs12924995, rs2304467 in USP7 gene was different in cases and controls (p = 0.026, 0.037, respectively). In the second stage, these two SNPs were determined. A total of 975 cases and 910 controls enrolled in the present study. Hardy-Weinberg equilibrium of rs2304467 and rs12924995 in the control group was tested (p = 0.979, 0.111). Multivariate analysis showed that breast cancer risk of women with C allele (CC or CG genotype) increased (p < 0.001, odds ratio = 1.87, 95% confidence interval, 1.44-2.44), compared with rs2304467 GG carriers. Besides, women with rs12924995A allele (AA or AC genotype) had higher risk of breast cancer than those with CC genotype (P=0.002, odds ratio=1.36, 95% confidence interval, 1.21-1.65). Breast cancer risk of women carried rs2304467C allele and rs12924995A allele also increased (p < 0.001, odds ratio = 2.05, 95% confidence interval, 1.54-2.73). Conclusions: SNPs rs2304467 and rs12924995 in USP7 gene are associated with breast cancer susceptibility in Chinese Han women.

Polymorphisms in genes involved in breast cancer among Iranian patients

2021 ◽  
Vol 18 (2) ◽  
pp. 153-169
Author(s):  
Gholamreza Farnoosh ◽  
Ali Saeedi-Boroujeni ◽  
Akram Jalali ◽  
Bijan Keikhaei ◽  
Mohammad-Reza Mahmoudian-Sani
Keyword(s):  
Breast Cancer ◽  
Cancer Progression ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Breast Cancers ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Igf I ◽  
Pai 1

This review gives a summary of the important genetic polymorphisms in breast cancer with a focus on people in Iran. Several single nucleotide polymorphisms were considered as breast cancer susceptibility polymorphisms within genes ( STK15, ERRs, ESR1, p53, SEP15, AURKA, SHBG, SRC, FAS, VEGF, XRCC1, GST, NFκB1, XPC, XRCC3, sirtuin-3, NKG2D). Cytosine–adenine repeat (IGF-I), rs3877899, G-2548A, GGC (eRF3a/GSPT1), IVS2nt-124A/G have shown an increased risk of breast cancers and a decreased risk has been observed in 4G/5G (PAI-1), rs6505162, tri-nucleotide ( GCG  TGFBR1). We observed that the signaling pathways and antioxidant related genes are the main molecular processes associated with breast cancer progression. Further studies on types of polymorphisms in breast cancer could validate the prognostic value of biomarkers.

scholarly journals The Associations of Single Nucleotide Polymorphisms in miR-146a, miR-196a and miR-499 with Breast Cancer Susceptibility

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e70656 ◽  
Author(s):  
Ping-Yu Wang ◽  
Zong-Hua Gao ◽  
Zhong-Hua Jiang ◽  
Xin-Xin Li ◽  
Bao-Fa Jiang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Single Nucleotide Polymorphism in hsa-mir-196a-2 and Breast Cancer Risk: A Case Control Study

2011 ◽  
Vol 14 (5) ◽  
pp. 417-421 ◽  
Author(s):  
Dominik J. Jedlinski ◽  
Plamena N. Gabrovska ◽  
Stephen R. Weinstein ◽  
Robert A. Smith ◽  
Lyn R. Griffiths
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Case Control ◽  
Cancer Tissue ◽  
Transcriptional Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

microRNAs are small, non-coding RNAs that influence gene expression on a post-transcriptional level. They participate in diverse biological pathways and may act as either tumor suppressor genes or oncogenes. As they may have an effect on thousands of target mRNAs, single-nucleotide polymorphisms in microRNA genes might have major functional consequences, because the microRNA's properties and/or maturation may change. miR-196a has been reported to be aberrantly expressed in breast cancer tissue. Additionally, the SNP rs11614913 in hsa-mir-196a-2 has been found to be associated with breast cancer risk in some studies although not in others. This study evaluated the association between rs11614913 and breast cancer risk in a Caucasian case-control cohort in Queensland, Australia. Results do not support an association of the tested hsa-mir-196a-2 polymorphism with breast cancer susceptibility in this cohort. As there is a discrepancy between our results and previous findings, it is important to assess the role of rs11614913 in breast cancer by further larger studies investigating different ethnic groups.

scholarly journals Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Jiaping Chen ◽  
Yue Jiang ◽  
Jing Zhou ◽  
Sijun Liu ◽  
Yayun Gu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
In Silico ◽  
Promoter Region ◽  
Cancer Susceptibility ◽  
Chinese Women ◽  
Close Association ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Variants in microRNA genes may affect their expression by interfering with the microRNA maturation process and may substantially contribute to the risk of breast cancer. Recent studies have identified miR-10b as an interesting candidate because of its close association with the metastatic behavior of breast cancer. However, the roles of miR-10b-related single nucleotide polymorphisms in breast cancer susceptibility remain unclear. This case-control study evaluated the associations between variants in the upstream transcription regulation region of miR-10b and the risk of breast cancer among Chinese women. Seven potentially functional SNPs were investigated using genotyping assays. The potential biological functions of the identified positive SNPs were further evaluated using in silico databases. We found that rs4078756, which was located at the promoter region of miR-10b, was significantly associated with breast cancer risk (rs4078756 AG/GG versus AA, adjusted odds ratio: 1.17, 95% confidence interval: 1.02–1.35). The other six single nucleotide polymorphisms exhibited negative associations. Based on the in silico prediction, rs4078756 potentially regulated miR-10b expression through promoter activation or repression. These findings indicate that a potentially functional SNP (rs4078756) in the promoter region of miR-10b may contribute to breast cancer susceptibility among Chinese women.

scholarly journals Association between Single-Nucleotide Polymorphisms in Breast Cancer Susceptibility Genes and Clinicopathological Characteristics

2020 ◽  
Author(s):  
Kejing Zhang ◽  
Lili Tang ◽  
Shouman Wang ◽  
Yuan Yang ◽  
Hao Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Cancer Susceptibility ◽  
Molecular Subtype ◽  
Breast Cancer Susceptibility ◽  
Clinicopathological Characteristics ◽  
Negative Association ◽  
Nucleotide Polymorphisms ◽  
Cancer Susceptibility Genes ◽  
Increased Risk

Abstract Background: The incidence rate of breast cancer ranks highest in both China and the United States. Understanding the associations between genetic polymorphisms and clinicopathological features of breast cancer may ultimately result in improvements in prevention, early detection, and treatment.The purpose of the present study was to evaluate the associations between seven tagging single nucleotide polymorphisms (tSNPs) and risk of breast cancer assessed by tumor pathological characteristics and body mass index (BMI). Methods: Seven tSNPs of four breast cancer susceptibility genes were analyzed in 734 Chinese women with breast cancer and 672 age-matched healthy controls, then the association with clinicopathological characteristics, BMI, molecular subtype, TNM staging and lymph node status, was determined. Results: Two tSNPs, rs12951053 located in TP53 and rs16945628 in BRIP1, displayed increased risk of breast cancer in the BMI ≧ 25 kg/m2 group (OR=1.50, 95% CI: 1.02-2.21, P=0.041 and OR=1.92, 95% CI: 1.13-3.26, P=0.015, respectively). The other five tSNPs (rs1805812, rs2735385 and rs6999227 in NBS1, rs7220719 in BRIP1 and rs2299941 in PTEN) displayed a decreased risk of breast cancer in the 18.5≤BMI<25 kg/m2 group. Two tSNPs, rs12951053 in TP53 and rs7220719 in BRIP1 exhibited an increased risk of triple‐negative breast cancer(TNBC) (OR=1.50, 95% CI: 1.05-2.15, P=0.026 and OR=2.13, 95% CI: 1.05-4.29, P=0.032, respectively), and the three tSNPs in NBS1 (rs1805812, rs2735385 and rs6999227) all displayed negative association with both luminal B breast cancer and TNBC. The tSNP rs2299941 in PTEN also exhibited a negative association with each breast cancer molecular subtype, except TNBC. The majority of tSNPs displayed a negative association with stage II or III breast cancer. A number of tSNPs showed a negative association with breast cancer that was lymph node negative or with 1-3 positive nodes. Only one tSNP, rs12951053 in TP53 displayed a positive association with lymph node negative breast cancer (OR=1.43, 95% CI: 1.08-1.91, P=0.013). Conclusions: The majority of tSNPs displayed a negative association with breast cancer and only a few tSNPs (rs12951053 in TP53, rs16945628 and rs7220719 in BRIP1) showed an increased risk of breast cancer as defined by clinicopathological characteristics.

scholarly journals Association Between Single-Nucleotide Polymorphisms in Breast Cancer Susceptibility Genes and Clinicopathological Characteristics

2020 ◽  
Author(s):  
Kejing Zhang ◽  
Lili Tang ◽  
Shouman Wang ◽  
Yuan Yang ◽  
Hao Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Cancer Susceptibility ◽  
Molecular Subtype ◽  
Breast Cancer Susceptibility ◽  
Clinicopathological Characteristics ◽  
Negative Association ◽  
Nucleotide Polymorphisms ◽  
Cancer Susceptibility Genes ◽  
Increased Risk

Abstract Objective The purpose of the present study was to evaluate the associations between seven tagging single nucleotide polymorphisms (tSNPs) and risk of breast cancer assessed by tumor pathological characteristics and body mass index (BMI). Methods Seven tSNPs of four breast cancer susceptibility genes were analyzed in 734 Chinese women with breast cancer and 672 age-matched healthy controls, then the association with clinicopathological characteristics, BMI, molecular subtype, TNM staging and lymph node status, was determined. Results Two tSNPs, rs12951053 located in TP53 and rs16945628 in BRIP1, displayed increased risk of breast cancer in the BMI ≧ 25 kg/m2 group (OR = 1.50, 95% CI: 1.02–2.21, P = 0.041 and OR = 1.92, 95% CI: 1.13–3.26, P = 0.015, respectively). The other five tSNPs (rs1805812, rs2735385 and rs6999227 in NBS1, rs7220719 in BRIP1 and rs2299941 in PTEN) displayed a decreased risk of breast cancer in the 18.5 ≤ BMI < 25 kg/m2 group. Two tSNPs, rs12951053 in TP53 and rs7220719 in BRIP1 exhibited an increased risk of triple-negative breast cancer(TNBC) (OR = 1.50, 95% CI: 1.05–2.15, P = 0.026 and OR = 2.13, 95% CI: 1.05–4.29, P = 0.032, respectively), and the three tSNPs in NBS1 (rs1805812, rs2735385 and rs6999227) all displayed negative association with both luminal B breast cancer and TNBC. The tSNP rs2299941 in PTEN also exhibited a negative association with each breast cancer molecular subtype, except TNBC. The majority of tSNPs displayed a negative association with stage II or III breast cancer. A number of tSNPs showed a negative association with breast cancer that was lymph node negative or with 1–3 positive nodes. Only one tSNP, rs12951053 in TP53 displayed a positive association with lymph node negative breast cancer (OR = 1.43, 95% CI: 1.08–1.91, P = 0.013). Conclusions The majority of tSNPs displayed a negative association with breast cancer and only a few tSNPs (rs12951053 in TP53, rs16945628 and rs7220719 in BRIP1) showed an increased risk of breast cancer as defined by clinicopathological characteristics.

scholarly journals Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 427 ◽  
Author(s):  
Sebastián Morales ◽  
Tomas De Mayo ◽  
Felipe Gulppi ◽  
Patricio Gonzalez-Hormazabal ◽  
Valentina Carrasco ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
South American ◽  
Dependent Manner ◽  
Nucleotide Polymorphisms ◽  
American Population ◽  
South American Population ◽  
Risk Alleles ◽  
Increased Risk

Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G>C or rs3746444:A>G and BC risk. The rs12975333:G>T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4–0.9] p = 0.006 and OR = 0.6 [95% CI 0.5–0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C>T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.

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