Association of single nucleotide polymorphisms rs63751445 of the MSH2 gene and rs863224614 of the MSH6 gene with susceptibility to breast cancer in samples from Northeast Brazil

Breast cancer (BC) is the cancer with the greatest epidemiological impact on the female population worldwide. The disease has a multifactorial etiology, with genetic implications that are not fully understood. In this context, genetic changes in the mismatch repair mechanism are notable for their potential relationship with BC, especially the single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation. The aim of this study was to evaluate for the first time the influence of the SNPs rs63751445 (A>G) of the MSH2 gene and rs863224614 (T>G) of the MSH6 gene for susceptibility to CM. For that, 100 samples obtained by histopathological examination of patients from the Northeast region of Brazil were used. The methodology used was the Didesoxy Single Allele Specific PCR (DSASP) method. Statistical analysis was performed by comparison with the control population (population in Hardy-Weinberg equilibrium) using Pearson's Chi-square and Fischer's exact tests. It was concluded that these two SNPs may be associated with susceptibility to BC in the studied population.

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Single-Nucleotide Polymorphisms in One-Carbon Metabolism Genes, Mediterranean Diet and the Risk of Pre- and Postmenopausal Breast Cancer

10.21203/rs.3.rs-26394/v1 ◽

2020 ◽

Author(s):

Shang Cao ◽

Zheng Zhu ◽

Jinyi Zhou ◽

Wei Li ◽

Yunqiu Dong ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Carbon Metabolism ◽

Dietary Pattern ◽

Postmenopausal Breast Cancer ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Female Population ◽

High Adherence ◽

One Carbon Metabolism

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 15 SNPs in eleven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT1A, MAT2B, FOLR1, CBS, GLS, DNMT3B, UNG2, ADA, CDO1) were performed. Dietary measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. The associations between high adherence to the MDP and risk reduction of BC were influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072), the protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared, while for MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women who take homozygous allele were less affected by adherence to the MDP than to women who take heterozygotes allele. Significant gene-diet interactions were observed between MTHFD1 (rs8003567) polymorphism and MDP on BC risk. Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.

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Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and the risk of pre- and postmenopausal breast cancer

10.21203/rs.3.rs-26394/v2 ◽

2020 ◽

Author(s):

Shang Cao ◽

Zheng Zhu ◽

Jinyi Zhou ◽

Wei Li ◽

Yunqiu Dong ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Carbon Metabolism ◽

Dietary Pattern ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Female Population ◽

Mediterranean Dietary Pattern ◽

High Adherence ◽

One Carbon Metabolism

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 10 SNPs in seven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT2B, CDO1, FOLR1, UNG2, ADA) were performed. Dietary intake measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. High adherence to the Mediterranean dietary pattern decreased the risk of breast cancer among post- but not premenopausal women and the association was influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072). The protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared. For MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women with homozygous were less affected by adherence to the MDP than to women who with heterozygotes. No significant gene-diet interactions were observed.Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.

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Faculty Opinions recommendation of Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1116724.572795 ◽

2008 ◽

Author(s):

Paul Terry ◽

Pamela Mink

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Discriminatory Accuracy

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Single nucleotide polymorphisms rs17335780 and rs11979255 of the epidermal growth factor receptor (EGFR) correlate with tumor size in breast cancer

The Breast ◽

10.1016/s0960-9776(21)00107-7 ◽

2021 ◽

Vol 56 ◽

pp. S25-S26

Author(s):

M. Sobočan ◽

B. Crnobrnja ◽

M. Gorenjak ◽

U. Potočnik ◽

I. Takač ◽

...

Keyword(s):

Breast Cancer ◽

Epidermal Growth Factor Receptor ◽

Growth Factor ◽

Epidermal Growth Factor ◽

Single Nucleotide Polymorphisms ◽

Tumor Size ◽

Growth Factor Receptor ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Epidermal Growth

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Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry

International Journal of Cancer ◽

10.1002/ijc.26300 ◽

2011 ◽

Vol 130 (11) ◽

pp. 2740-2742 ◽

Cited By ~ 3

Author(s):

Chang Sun ◽

Dezheng Huo ◽

Barbara Nemesure ◽

Anselm Hennis ◽

M. Cristina Leske ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

African Ancestry ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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The role of functional polymorphisms in oxidative stress-related genes on early-stage breast cancer survival

The International Journal of Biological Markers ◽

10.1177/17246008211011177 ◽

2021 ◽

pp. 172460082110111

Author(s):

Erika Korobeinikova ◽

Rasa Ugenskiene ◽

Ruta Insodaite ◽

Viktoras Rudzianskas ◽

Jurgita Gudaitiene ◽

...

Keyword(s):

Breast Cancer ◽

Overall Survival ◽

Single Nucleotide Polymorphisms ◽

Early Stage ◽

Disease Free Survival ◽

Early Stage Breast Cancer ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Free Survival ◽

Disease Free

Background: Genetic variations in oxidative stress-related genes may alter the coded protein level and impact the pathogenesis of breast cancer. Methods: The current study investigated the associations of functional single nucleotide polymorphisms in the NFE2L2, HMOX1, P21, TXNRD2, and ATF3 genes with the early-stage breast cancer clinicopathological characteristics and disease-free survival, metastasis-free survival, and overall survival. A total of 202 Eastern European (Lithuanian) women with primary I–II stage breast cancer were involved. Genotyping of the single nucleotide polymorphisms was performed using TaqMan single nucleotide polymorphisms genotyping assays. Results: The CA+AA genotypes of P21 rs1801270 were significantly less frequent in patients with lymph node metastasis and larger tumor size ( P=0.041 and P=0.022, respectively). The TT genotype in ATF3 rs3125289 had significantly lower risk of estrogen receptor (ER), progesterone receptor (PR) negative, and human epidermal growth factor receptor 2 (HER2) positive status ( P=0.023, P=0.046, and P=0.040, respectively). In both, univariate and multivariate Cox analysis, TXNRD2 rs1139793 GG genotype vs. GA+AA was a negative prognostic factor for disease-free survival (multivariate hazard ratio (HR) 2.248; P=0.025) and overall survival (multivariate HR 2.248; P=0.029). The ATF3 rs11119982 CC genotype in the genotype model was a negative prognostic factor for disease-free survival (multivariate HR 5.878; P=0.006), metastasis-free survival (multivariate HR 4.759; P=0.018), and overall survival (multivariate HR 3.280; P=0.048). Conclusion: Our findings suggest that P21 rs1801270 is associated with lymph node metastasis and larger tumor size, and ATF3 rs3125289 is associated with ER, PR, and HER2 status. Two potential, novel, early-stage breast cancer survival biomarkers, TXNRD2 rs1139793 and ATF3 rs11119982, were detected. Further investigations are needed to confirm the results of the current study.

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