HER2 Ile655Val polymorphism is negatively associated with breast cancer susceptibility

作者：de Almeida Felipe Campos; Banin Hirata Bruna Karina; Ariza Carolina Batista; Guembarovski Roberta Losi; de Oliveira Karen Brajao; Suzuki Karen Mayumi; Guembarovski Alda Losi; Maeda Oda Julie Massayo; Freire Vitiello Glauco Akelinghton; Ehara Watanabe Maria Angelica

来源：Journal of Clinical Laboratory Analysis, 2018, 32(6): e22406.

DOI：10.1002/jcla.22406

• breast cancer
• clinicopathological features
• genetic polymorphism
• HER2
• prognosis
• single nucleotide polymorphism
• susceptibility

BackgroundThe 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.
MethodsPolymorphism 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.
ResultsA 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).
ConclusionAlthough this polymorphism did not demonstrate potential as a prognostic marker, it may be a suitable susceptibility marker for BC.

• 出版日期2018-7