Chien‑Yu Lina,b, Shu‑Fen Yanga,b, Yu‑Ling Hoc, Cheng‑Mao Hoa,c,d,e*
aDepartment of Laboratory Medicine, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan, bDepartment of Laboratory Medicine and Biotechnology, College of Medicine, Tzu Chi University, Hualien, Taiwan, cDepartment of Nursing, Hungkuang University, Taichung, Taiwan, dDepartment of Clinical Pathology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan, eDepartment of Laboratory Medicine and Diagnosis, School of Medicine, Tzu Chi University, Hualien, Taiwan
Open Access funded by Buddhist Compassion Relief Tzu Chi Foundation
Abstract
Objective: Breast cancer is one of the most common malignancies and a leading cause of cancer‑related death in women worldwide. Both hormone‑related factors and genetic aberrations could cause breast cancer. We investigated copy number alternations (CNAs) on four breast cancer‑susceptible loci, namely 2q35‑rs13387042, 3p24‑rs4973768, 17q23‑rs6504950, and fibroblast growth factor receptor 2 (FGFR2)‑rs2981578, in Taiwanese women. Patients and Methods: Breast cancer tissues and blood samples from 66 patients and their clinical data were collected from a human biobank. The copy numbers of the germline samples (from blood) and cancer tissues from each patient on the susceptible loci – 2q35, 3p24, 17q23, and FGFR2 – were obtained using TaqMan probes in the Applied Biosystems Inc., (ABI) StepOnePlus Real‑Time Polymerase Chain Reaction instrument and CopyCaller® Software v1.0 (ABI, CA, USA). Results: The mean copy numbers output by CopyCaller® Software v1.0 of the cancer tissues on these susceptible loci (2q35, 3p24, 17q23, and FGFR2) from the 66 patients were higher than those of the blood samples (2.0 vs. 1.9); however, significantly higher copy numbers for cancer tissues compared with germline samples were discovered only on 2q35‑rs13387042 (P = 0.035). In addition, patients with advanced breast cancers had relatively many CNAs between their cancer tissues and germline samples on 17q23‑rs6504950 (P = 0.008). Multivariate analysis revealed that the risk factor for patients with advanced breast cancers was CNAs between cancer tissues and germline samples on 17q23‑rs6504950 (odds ratio = 13.337, 95% confidence interval: 1.525–122.468). Conclusions: CNAs on 17q23‑rs6504950 between cancer tissues and germline samples could affect cancer progression in Taiwanese women with breast cancer. Further investigations regarding the role of CNAs on 17q23‑rs6504950 in cancer progression are necessary to elucidate the pathogenesis of breast cancer.
Keywords: 17q23, Breast cancer, Copy number alternations, Taiwan
