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.
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http://dx.doi.org/10.1002/jcla.22406 | DOI Listing |
Asian Pac J Cancer Prev
January 2023
Molecular Biology and Biotechnology Laboratory, Federal University of Amapa, Macapá, Amapá, Brazil.
Background: The polymorphisms Arg72Pro in the TP53 gene (rs1042522) and Ile655Val in the HER2 gene (rs1136201) have been related to susceptibility to several types of cancer. Different studies show the association of these polymorphisms with breast cancer, so our aim in this study was to investigate whether the Arg72Pro and Ile655Val polymorphisms have any influence on the risk of developing breast cancer in women from the city of Macapá, Amapá, located in the brazilian amazon region.
Methods And Results: We then analyzed 80 DNA samples from women with breast cancer and 83 DNA samples from women without the disease, by the Restriction Fragment Length Polymorphism - Polymerase Chain Reaction (PCR-RFLP) technique.
Sci Rep
July 2021
Faculty of Pharmacy and Biochemistry, Clinical Institute of Chemistry, University Hospital Center "Sestre Milosrdnice", University of Zagreb, Zagreb, Croatia.
Trastuzumab has improved the prognosis of HER2 positive breast cancer, but cardiotoxicity remains a concern. We aimed to identify risk factors for trastuzumab-induced cardiotoxicity, with an emphasis on the HER2 Ile655Val single nucleotide polymorphism. This single-center case-control study included 1056 patients with early-stage HER2 positive breast cancer that received adjuvant trastuzumab.
View Article and Find Full Text PDFFront Cardiovasc Med
June 2021
Guang'anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.
Chemotherapy is widely used in the treatment of cancer patients, but the cardiotoxicity induced by chemotherapy is still a major concern to most clinicians. Currently, genetic methods have been used to detect patients with high risk of chemotherapy-induced cardiotoxicity (CIC), and our study evaluated the correlation between genomic variants and CIC. The systematic literature search was performed in the PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), China Biology Medicine disc (CBMdisc), the Embase database, China National Knowledge Internet (CNKI) and Wanfang database from inception until June 2020.
View Article and Find Full Text PDFJ Oncol
February 2021
Department of Biotechnology, Jamia Millia Islamia, New Delhi, India.
Breast cancer is the most common carcinoma in women worldwide. The present case-control study was aimed to examine the association of BCL-2 (-938C> A), BAX (-248G > A), and HER2 (I655V i.e.
View Article and Find Full Text PDFJ Genet Eng Biotechnol
January 2021
Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Andalas University, West Sumatra, Indonesia.
Background: Breast cancer is a disease in which cell grows rapidly forming a mass in the breast. HER2 polymorphisms Ile655Val have been studied as biomarkers for breast cancer and may comprise a risk factor of cardiac toxicity for breast cancer-consuming trastuzumab.
Aim Of Work: In this study, we developed a simple, low cost, and rapid test to detect polymorphism at HER2 gene using SYBR Green I-based melting curve method.
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