HER2 Ile655Val polymorphism is negatively associated with breast cancer susceptibility. Issue 6 (8th February 2018)

• Record Type: Journal Article
• Authors: de Almeida, Felipe Campos; Banin Hirata, Bruna Karina; Ariza, Carolina Batista; Losi Guembarovski, Roberta; de Oliveira, Karen Brajão; Suzuki, Karen Mayumi; Guembarovski, Alda Losi; Oda, Julie Massayo Maeda; Vitiello, Glauco Akelinghton Freire; Watanabe, Maria Angelica Ehara
• Is Part Of: Journal of clinical laboratory analysis. Volume 32:Issue 6(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-02-08
• Subjects: breast cancer -- clinicopathological features -- genetic polymorphism -- HER2 -- prognosis -- single nucleotide polymorphism -- susceptibility; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.22406
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract : Background: The HER2 (human epidermal growth factor receptor‐2) Ile655Val (rs1136201) genetic polymorphism can alter the receptor structure and its auto‐activation, which can modify the signal transduction and, consequently, the cell cycle regulation. For this reason, this polymorphism has been extensively investigated as a candidate marker for breast cancer (BC). In this context, the aim of this study was to evaluate the possible influence of HER2 Ile655Val in BC susceptibility and prognostic factors in a Brazilian population. Methods: Polymorphism genotype was assessed through RFLP‐PCR in 107 BC patients with clinicopathological data available and in 150 women with no evidence of neoplasia and with no familial history of BC as control group. Association between this polymorphism and BC susceptibility and clinical parameters was evaluated through odds ratio (OR) and chi‐squared or Fisher's exact test, respectively. Results: A significant negative association between valine allele and BC susceptibility in dominant model was found (OR 0.5; 95% CI 0.27‐0.93, P = .036). No significant association was found in relation to BC clinicopathological features (tumor size, lymph nodes commitment, histological grade, HER2 overexpression, hormonal receptors, p53, and Ki‐67). Conclusion: Although this polymorphism did not demonstrate potential as a prognostic marker, it may be a suitable susceptibility marker for BC.