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

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ramadhan Karsono ◽  
Samuel J. Haryono ◽  
Bambang Karsono ◽  
Wirsma Arif Harahap ◽  
Yulia Pratiwi ◽  
...  

Abstract Background 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. Methods This 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. Results The 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). Conclusion The 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.

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 13157-13157
Author(s):  
J. H. Schornagel ◽  
H. H. Helgason ◽  
S. Rodenhuis ◽  
J. H. Schellens

13157 Background: Fulvestrant is a selective estrogen and progesterone receptor down regulator with equivalent efficacy, i.e. RR, TTP and OS, in comparison to anastrozole in the 1st and 2nd line of hormonal treatment in women with advanced breast cancer. Methods: We retrospectively evaluated all patients with advanced breast cancer who were treated with fulvestrant between 06/2003 and 08/2005 in our institution. Response was evaluated according to the RECIST criteria in case of measurable disease but with bone scintigraphy (new bone metastasis) and/or change in CA 15.3 in case of evaluable disease. Results: In total 32 patients (20 with measurable and 12 with evaluable disease) with advanced breast cancer were identified. Median age was 50 (range: 24 - 72) years, 25 (78%) patients had bone/soft tissue involvement, 17 (53%) had visceral metastases and 1 had CNS metastases. All had received prior hormonal treatments; fulvestrant was the 3rd, 4th or higher line of hormonal treatment in 26 (81%) and 20 (63%) patients, respectively. The preceding hormonal treatments mostly included tamoxifen, non-steroidal aromatase inhibitors, steroidal aromatase inhibitors and megestrole acetate, but also ovarian ablation and aminoglutethimide. In total 20 (63%) patients had received prior adjuvant or palliative chemotherapy, 13 (41%) had received 2≥ and 5 patients (16%) had received 4≥ lines of chemotherapy. The chemotherapy contained an anthracycline, a taxane or capecitabine, but also vinorelbine, gemcitabine or high dose chemotherapy. In total 139 administrations of fulvestrant (mean: 4.3; range 1 - 18) were given. Most patients received 3 - 6 administrations except two who received 17 and 18 administrations respectively. In this cohort of 32 patients no objective tumor response or clinical benefit was seen, except in 1 patient, previously treated with tamoxifen, who had stable disease for > 18 months. The patient receiving fulvestrant for 17 months was slowly progressive during treatment. Fulvestrant was well tolerated without treatment discontinuation because of toxicity. Conclusion: Fulvestrant was not effective in our small cohort of heavily pre-treated breast cancer patients and may not be a good treatment option after 3rd or higher line of hormonal treatment or chemotherapy. No significant financial relationships to disclose.


2005 ◽  
Vol 22 (1) ◽  
pp. 023-028 ◽  
Author(s):  
David Muñoz-Gonzalez ◽  
Isabel Zeichner-Gancz ◽  
Myrna Candelaria ◽  
Maria Teresa Ramirez-Ugalde ◽  
Manuel Perez-Sanchez ◽  
...  

2007 ◽  
Vol 9 (4) ◽  
Author(s):  
Javier Silva ◽  
Vanesa García ◽  
José M García ◽  
Cristina Peña ◽  
Gemma Domínguez ◽  
...  

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