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

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. | Karsono et al. BMC Cancer 2021 21 1348 https s12885-021-09083-x RESEARCH ARTICLE Open Access ESR1 PvuII polymorphism from risk factor to prognostic and predictive factor of the success of primary systemic therapy in advanced breast cancer Ramadhan Karsono1 Samuel J. Haryono1 Bambang Karsono2 Wirsma Arif Harahap3 Yulia Pratiwi4 and Teguh Aryandono5 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 prog- nostic 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 Hospi- tal 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 and respec- tively. Looking at prognosis patients with ESR1 PvuII TC CC had shorter overall survival than those with the TT genotype HR 95 CI p . As a predictive marker TC CC was associated with shorter survival p 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 geno- types could be regarded as a good predictor of the therapeutic effect of hormonal treatment. Keywords ESR1 PvuII Breast cancer Hormonal Chemotherapy Indonesia Background that can be informative in identifying their risk choos- Breast cancer is the most common cancer in women and ing their therapy and making a prognosis. Information is a heterogeneous disease based on

• Y khoa - Dược
• BMC Cancer
• ESR1 PvuII
• Breast cancer
• Heterogeneous disease
• Epidemiological risk
• ESR1 mutations
• Hormonal treatment
• Cancer patient pathways
• Colorectal cancer
• Lung cancer
• Prostate cancer
• Ovarian cancer
• Cancer detection
• Ovarian cancer symptoms
• Ovarian cancer signs
• Ovarian cancer tests
• Cancer biomarkers
• Pediatric cancer
• Familial cancer predisposition
• Hereditary cancer syndrome
• Genetic cancer susceptibility
• Advanced cancer
• Biliary tract cancer
• Multimodal intervention
• Pancreatic cancer
• Physical activity
• Breast cancer screening
• Familial breast cancer
• Young breast cancer survivors
• High risk relatives
• Randomized trial
• Childhood cancer
• Childhood cancer survivor
• Thyroid cancer screening
• Secondary cancer
• Cancer screening
• Community awareness
• Cancer education
• Cervical cancer
• Prior cancer
• Cancer survivors
• Cancer registry
• Second cancer
• Surgical oncology
• Cancer imaging
• Radiation oncologists
• Medical oncologists
• Oesophagogastric cancer
• Liver cancer
• Hepatobiliary cancer
• Multidisciplinary rehabilitation
• EGFR mutation
• Family history of cancer
• Inherited susceptibility
• Cancer predisposition genes
• Lung cancer aetiology
• Cancer stem cells
• Oct4 overexpressing lung cancer
• Human lung cancer xenograft model
• Disease free survivals
• Cancer hallmarks
• Cancer genesis
• Defiant disease
• Mutational signature
• Cancer diagnosis
• Cancer genomics
• Molecular medicine
• Whole genome sequencing
• Cancer susceptibility gene
• Breast cancer prognosis
• Next generation sequencing
• Quality of care
• Quality indicators
• Shifting cancer care
• German cancer society
• Colorectal cancer screening
• Stomach cancer screening
• Lung cancer survivor
• Physician recommendation
• Total number of lymph nodes
• Lymph node ratio
• Left colon cancer
• Right colon cancer
• Overall survival
• Cumulative incidence
• Esophageal cancer
• Head and neck cancer
• Metachronous cancer
• Young onset
• Reproductive cancer
• Risk factor
• Early detection of cancer
• Gastric cancer incidence
• Population based specialized registry
• Gastric cancer survival
• Gastric cancer clinical characteristics
• Gastric cancer pathological characteristics
• Lung Cancer Screening
• Racial disparities
• Lung Cancer diagnosis
• Screening adherence
• Second primary colorectal cancer
• Standardized incidence ratio
• Left sided colon cancer
• Right sided colon cancer
• Quality of cancer care
• Population based study