ESR1 PvuII polymorphism: from risk factor to prognostic and predictive factor of the success of primary systemic therapy in advanced breast cancer

Karsono, Ramadhan; Haryono, Samuel J; Karsono, Bambang; Harahap, Wirsma Arif; Pratiwi, Yulia; Aryandono, Teguh

doi:10.1186/s12885-021-09083-x

Cited by 7 publications

(5 citation statements)

References 28 publications

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“…Several studies have shown that CXCL11, CXCL13, and CXCL14 biomarkers are closely related to chemotherapeutic resistance in BC (29)(30)(31)(32)(33). ESR1 encodes estrogen receptor α (ERα) and plays an important role in the tumorigenesis of BC (34). The vast majority of BCs are ER positive and endocrine sensitive but not sensitive to chemotherapy (35,36).…”

Section: Discussionmentioning

confidence: 99%

Identification of immune-related biomarkers for predicting neoadjuvant chemotherapy sensitivity in HER2 negative breast cancer via bioinformatics analysis

Fang

et al. 2022

Gland Surg

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Background: Neoadjuvant chemotherapy (NAC) is an important treatment for breast cancer (BC) patients.However, due to the lack of specific therapeutic targets, only 1/3 of human epidermal growth factor receptor 2 (HER2)-negative patients reach pathological complete response (pCR). Therefore, there is an urgent need to identify novel biomarkers to distinguish and predict NAC sensitive in BC patients.Methods: The GSE163882 dataset, containing 159 BC patients treated with NAC, was downloaded from the Gene Expression Omnibus (GEO) database. Patients with pathological complete response (pCR) and those with residual disease (RD) were compared to obtain the differentially expressed genes (DEGs).Functional enrichment analyses were conducted on these DEGs. Then, we intersect the DEGs and immunerelated genes to obtain the hub immune biomarkers, and then use the linear fitting model ("glm" package) to construct a prediction model composed of 9 immune biomarkers. Finally, the single sample gene set enrichment analysis (ssGSEA) algorithm was used to analyze immune cell invasion in BC patients, and the correlation between immune cell content and immune gene expression levels was analyzed.Results: Nine immune-related biomarkers were obtained in the intersection of DEGs and immune-related genes. Compared with RD patients, CXCL9, CXCL10, CXCL11, CXCL13, GZMB, IDO1, and LYZ were highly expressed in pCR patients, while CXCL14 and ESR1 were lowly expressed in pCR patients. After linear fitting of the multi-gene expression model, the area under the curve (AUC) value of the ROC curve diagnosis of pCR patients was 0.844. Immunoinfiltration analysis showed that compared with RD patients, 15 of the 28 immune cell types examined showed high-infiltration in pCR patients, including activated CD8 T cells, effector memory CD8 T cells, and activated CD4 T cells.Conclusions: This investigation ultimately identified 9 immune-related biomarkers as potential tools for assessing the sensitivity of NAC in HER2-negative BC patients. These biomarkers have great potential for predicting pCR BC patients.

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Section: Discussionmentioning

confidence: 99%

Identification of immune-related biomarkers for predicting neoadjuvant chemotherapy sensitivity in HER2 negative breast cancer via bioinformatics analysis

Fang

et al. 2022

Gland Surg

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“…Our study revealed that breast patients who carried AhR (GG), Xbal (AA), and PvuII (TT) genotypes had a better prognosis, this agreed with findings of previous studies. 4,11,16 In conclusion, the polymorphic variation of positive genotypes of PvuII, XbaI, and AhR polymorphisms is highly associated with better prognosis in breast cancer patients. Negative genotypes of PvuII, XbaI, and AhR polymorphisms are strong and significantly prevalent in poor-prognostic breast cancer patients…”

Section: Discussionmentioning

confidence: 85%

Association between estrogen receptor alpha and aryl hydrocarbon receptor gene polymorphisms in the prognosis of breast cancer in Egypt

Mohamed

2024

EJI

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Breast cancer is the most malignant tumor among women in the world. Single nucleotide polymorphisms (SNPs) might better predict breast cancer prognosis. PvuII (T/C substitution), XbaI (A/G substitution), and aryl hydrocarbon (AhR) (G/A substitution) were evaluated as possible genetic prognostic factors for breast cancer. The aim of the current study was to assess the relation between PvuII (rs2234693), XbaI (rs9340799), and aryl hydrocarbon receptor gene polymorphisms AhR (rs2066853) in breast cancer prognosis. This was a case-control study that included 120 breast cancer patients classified into two groups. The first group included 60 patients with good prognostic factors, and the second group included 60 patients with poor prognostic factors. Blood samples were taken from all study participants to perform the genotyping assay. We found that positive genotypes of PvuII, XbaI, and AhR polymorphisms were strongly associated with better prognostic factors for breast cancer patients, while negative genotypes of PvuII and XbaI were more and significantly prevalent in poor prognostic breast cancer patients. We conclude that PvuII T/C, XbaI G/A, and AhR G/A alleles may be prognostic for breast cancer progression. ‎

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“…Genetic variation T/C of the PvuII polymorphism of the ESR1 gene may be a risk factor for hepatocellular carcinoma, gallbladder cancer [46], breast cancer [10,47], and endometrial cancer [48]. Genotypes T/C and C/C for the PvuII polymorphism of the ESR1 gene give a poor prognosis in advanced breast cancer, but they can be considered a good predictor of the therapeutic effect of hormone therapy [49,50]. The PvuII polymorphism of the ESR1 gene can change susceptibility to endometrial cancer [51].…”

Section: Discussionmentioning

confidence: 99%

Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

Tsyndrenko,

Romaniuk

2024

EUMJ

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Introduction. The endometrial hyperplastic process is an estrogen-dependent benign condition of the uterus, which is frequently a cause of infertility, ovarian-menstrual cycle disorders, and malignant transformation into uterine cancer. The effect of estrogen on the endometrium is realized through the estrogen receptor alpha. It is manifested by a whole range of biological changes, including cell reproduction and growth, tissue development, etc. Estrogen receptor alpha is encoded by the ESR1 gene, which is located on chromosome 6q25 and has eight exons and seven introns. Today, about 9,000 polymorphisms of the ESR1 gene have been described, some of which are associated with gene activity changes. Such functional polymorphisms include the PvuII polymorphism (rs2234693), which occurs due to the substitution of thymine (T) for cytosine (C) in the first intron of the gene. Objective. The purpose of this study was to assess the frequency of allelic variants of the estrogen receptor alpha gene for the PvuII polymorphism in patients with endometrial hyperplastic process living in the Sumy Oblast of Ukraine and to study its relationship with the histological variant of endometrial hyperplastic process, anthropometric parameters, age categories, medical history, and concomitant diseases. Materials and Methods. Genomic DNA was isolated from blood samples of 95 women with endometrial hyperplastic processes and 80 healthy women. The rs2234693 polymorphism was studied using a polymerase chain reaction with subsequent restriction fragment length polymorphism analysis (PCR-RFLP). The data were processed and statistically analyzed with Microsoft Excel and SPSS Statistics 29.0 for Windows software package. Descriptive statistics, Student's test, ANOVA method, and Pearson's chi-squared test were used in this study. Results with P < 0.05 were considered statistically significant. Results. The distribution of genotype variants for the PvuII polymorphism of the ESR1 gene in women with endometrial hyperplastic process was: homozygotes for the major allele (T/T) – 31.6%, heterozygotes (T/C) – 49.5%, homozygotes for the minor allele (C/C) – 18.9%; in the control group, these values were 30%, 52.5%, and 17.5%, respectively. There was no difference in the distribution of genotypes in patients with endometrial hyperplastic processes and healthy women (χ2 = 0.163, P = 0.922). No associations were found between the PvuII polymorphism and the histological variant of endometrial hyperplastic processes (χ2 = 4.14, P = 0.387), anthropometric parameters (P > 0.05), age (χ2 = 2.98, P = 0.560), medical history (P > 0.05), or concomitant genital and extragenital conditions (P > 0.05). Conclusions. There was no difference in the distribution of T/T, T/C, and C/C genotypes for the PvuII polymorphism in the estrogen receptor alpha gene between patients with endometrial hyperplastic process and the control group. There was no correlation between the genotype variant for the studied polymorphism and the histological variant of the endometrial hyperplastic process, anthropometric parameters, age, medical history, concomitant genital and extragenital conditions in patients of the Sumy Oblast, Ukraine.

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ESR1 PvuII polymorphism: from risk factor to prognostic and predictive factor of the success of primary systemic therapy in advanced breast cancer

Cited by 7 publications

References 28 publications

Identification of immune-related biomarkers for predicting neoadjuvant chemotherapy sensitivity in HER2 negative breast cancer via bioinformatics analysis

Identification of immune-related biomarkers for predicting neoadjuvant chemotherapy sensitivity in HER2 negative breast cancer via bioinformatics analysis

Association between estrogen receptor alpha and aryl hydrocarbon receptor gene polymorphisms in the prognosis of breast cancer in Egypt

Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

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