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

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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Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population

BMC Genetics ◽

10.1186/s12863-016-0415-0 ◽

2016 ◽

Vol 17 (1) ◽

Cited By ~ 35

Author(s):

Sebastián Morales ◽

Felipe Gulppi ◽

Patricio Gonzalez-Hormazabal ◽

Ricardo Fernandez-Ramires ◽

Teresa Bravo ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Cancer Susceptibility ◽

Breast Cancer Susceptibility ◽

South American ◽

Nucleotide Polymorphisms ◽

American Population ◽

South American Population ◽

Single Nucleotide

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

10.21203/rs.3.rs-33064/v2 ◽

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.

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

10.21203/rs.3.rs-33064/v1 ◽

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.

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LRRC3B polymorphisms contributed to breast cancer susceptibility in Chinese Han Population

10.21203/rs.3.rs-61551/v1 ◽

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.

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Significant Association of miR-605 rs2043556 with Susceptibility to Breast Cancer

MicroRNA ◽

10.2174/2211536608666190926155149 ◽

2020 ◽

Vol 9 (2) ◽

pp. 133-141

Author(s):

Arezu Kazemi ◽

Sadeq Vallian

Keyword(s):

Breast Cancer ◽

Noncoding Rna ◽

Cancer Susceptibility ◽

Breast Cancer Susceptibility ◽

Allelic Frequency ◽

Iranian Population ◽

P Value ◽

Nucleotide Polymorphisms ◽

Mirna Genes ◽

Increased Risk

Background: MicroRNAs (miRNAs) are noncoding RNA molecules, which directly regulate gene expression. It has been documented that single nucleotide polymorphisms in miRNA genes could alter the regulation of miRNA expression and function. Objective: In this study, the allele and genotype frequency of miR-605 rs2043556 and its association with breast cancer were investigated in the Iranian population. Methods: Genotyping was performed in 162 females affected with breast cancer and 180 healthy individuals. Genotyping was performed using Restriction Fragment Length Polymorphism (RFLP) followed by Sanger sequencing. Results: The data showed the presence of Hardy Weinberg equilibrium (HWE) for this marker in the Iranian population. Allelic frequency for A and G allele was 0.75 and 0.25, respectively. Odd ratios for the association between miR-605 rs2043556 AG/GG genotypes was 3.86 with p-value= 0. Conclusion: The results indicated an increased risk for breast cancer susceptibility for miR-605 rs2043556 in the Iranian population.

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Polymorphisms in genes involved in breast cancer among Iranian patients

Personalized Medicine ◽

10.2217/pme-2020-0003 ◽

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.

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LRRC3B Polymorphisms Contributed to Breast Cancer Susceptibility in Chinese Han Population

Frontiers in Oncology ◽

10.3389/fonc.2021.657168 ◽

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.

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