Copy number alternations of the 17q23-rs6504950 locus are associated with advanced breast cancers in Taiwanese women.

Ci ji yi xue za zhi = Tzu-chi medical journal Pub Date : 2019-06-17 eCollection Date: 2020-04-01 DOI:10.4103/tcmj.tcmj_45_19
Chien-Yu Lin, Shu-Fen Yang, Yu-Ling Ho, Cheng-Mao Ho
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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.

Abstract Image

17q23-rs6504950位点的拷贝数交替与台湾妇女的晚期乳腺癌有关。
目的:乳腺癌是最常见的恶性肿瘤之一,也是全球妇女因癌症死亡的主要原因。激素相关因素和基因畸变都可能导致乳腺癌。我们研究了台湾女性四个乳腺癌易感基因位点的拷贝数变异(CNAs),即 2q35-rs13387042、3p24-rs4973768、17q23-rs6504950 和成纤维细胞生长因子受体 2(FGFR2)-rs2981578:从人类生物库中收集了66名患者的乳腺癌组织和血液样本及其临床数据。使用应用生物系统公司(ABI)StepOnePlus 实时聚合酶链反应仪和 CopyCaller® 软件 v1.0(ABI,CA,USA)中的 TaqMan 探针获得了每位患者的生殖细胞样本(来自血液)和癌症组织在易感位点 2q35、3p24、17q23 和 FGFR2 上的拷贝数:66名患者的癌症组织在这些易感位点(2q35、3p24、17q23和FGFR2)上的平均拷贝数由CopyCaller®软件v1.0输出,高于血液样本(2.0对1.9);然而,仅在2q35-rs13387042上发现癌症组织的拷贝数显著高于种系样本(P = 0.035)。此外,晚期乳腺癌患者的癌组织与种系样本在 17q23-rs6504950 上的 CNA 相对较多(P = 0.008)。多变量分析显示,晚期乳腺癌患者的风险因素是癌症组织与 17q23-rs6504950 上的种系样本之间的 CNAs(几率比 = 13.337,95% 置信区间:1.525-122.468):结论:癌症组织与种系样本之间 17q23-rs6504950 上的 CNAs 可能会影响台湾女性乳腺癌患者的癌症进展。要阐明乳腺癌的发病机制,有必要进一步研究 17q23-rs6504950 上的 CNAs 在癌症进展中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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