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

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

doi:10.1186/s12885-021-09083-x

Ramadhan Karsono, Yulia Pratiwi + Show 4 more

Open Access

https://doi.org/10.1186/s12885-021-09083-x

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Abstract

BackgroundThe ESR1 gene encodes Estrogen Receptor alpha (ERα), which plays a role in the tumourigenesis of breast cancer. A single nucleotide polymorphism (SNP) in intron 1 of this gene called ESR1 PvuII (rs2234693) has been reported to increase the risk of breast cancer. This study aimed to investigate the ESR1 PvuII polymorphism as a prognostic and predictive factor guiding the choice of therapy for advanced breast cancer.MethodsThis retrospective study was conducted in 104 advanced breast cancer patients at Dharmais Cancer Hospital from 2011 to 2018. The ESR1 PvuII polymorphism was analysed by Sanger sequencing of DNA from primary breast tumour samples.ResultsThe percentages of patients with ESR1 PvuII genotypes TT, TC, and CC were 42.3, 39.4, and 18.3%, respectively. Looking at prognosis, patients with ESR1 PvuII TC + CC had shorter overall survival than those with the TT genotype [HR = 1.79; 95% CI 1.05–3.04; p = 0.032]. As a predictive marker, TC + CC was associated with shorter survival (p = 0.041), but TC + CC patients on primary hormonal therapy had a median overall survival longer than TC + CC patients on primary chemotherapy (1072 vs 599 days).ConclusionThe ESR1 PvuII TC + CC genotypes confer poor prognosis in advanced breast cancer, but these genotypes could be regarded as a good predictor of the therapeutic effect of hormonal treatment.

Highlights

The ESR1 gene encodes Estrogen Receptor alpha (ERα), which plays a role in the tumourigenesis of breast cancer
Correlation of ESR1 PvuII genotype with survival Correlations type of ESR1 PvuII polymorphism with treatment effect and survival In the TT group, patients who underwent primary hormonal therapy had a median Overall survival (OS) of 1375 days compared with 951 days for patients who underwent primary chemotherapy (Fig. 3A)
There was a significant difference in survival in the TC + CC variant group (Fig. 3B), as these patients survived longer after primary hormonal therapy than primary chemotherapy (1072 vs. 599 days)

Summary

Introduction

The ESR1 gene encodes Estrogen Receptor alpha (ERα), which plays a role in the tumourigenesis of breast cancer. A single nucleotide polymorphism (SNP) in intron 1 of this gene called ESR1 PvuII (rs2234693) has been reported to increase the risk of breast cancer. This study aimed to investigate the ESR1 PvuII polymorphism as a prognostic and predictive factor guiding the choice of therapy for advanced breast cancer. An intronic polymorphism in the ESR1 gene (rs2234693), called ESR1 PvuII, is associated with an increased risk of breast cancer and decreased estrogen receptor (ER) expression [3]. We investigated ESR1 PvuII as a prognostic and predictive factor for the selection of therapy in advanced breast cancer

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