Chien-Yu Lin, Shu-Fen Yang, Yu-Ling Ho, Cheng-Mao Ho
{"title":"17q23-rs6504950位点的拷贝数交替与台湾妇女的晚期乳腺癌有关。","authors":"Chien-Yu Lin, Shu-Fen Yang, Yu-Ling Ho, Cheng-Mao Ho","doi":"10.4103/tcmj.tcmj_45_19","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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 <i>2q35-rs13387042</i>, <i>3p24-rs4973768</i>, <i>17q23-rs6504950</i>, and <i>fibroblast growth factor receptor 2</i> (<i>FGFR2</i>)-rs2981578, in Taiwanese women.</p><p><strong>Patients and methods: </strong>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 - <i>2q35</i>, <i>3p24</i>, <i>17q23</i>, and <i>FGFR2</i> - were obtained using TaqMan probes in the Applied Biosystems Inc., (ABI) StepOnePlus Real-Time Polymerase Chain Reaction instrument and CopyCaller<sup>®</sup> Software v1.0 (ABI, CA, USA).</p><p><strong>Results: </strong>The mean copy numbers output by CopyCaller<sup>®</sup> Software v1.0 of the cancer tissues on these susceptible loci (<i>2q35, 3p24, 17q23</i>, and <i>FGFR2</i>) 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 (<i>P</i> = 0.035). In addition, patients with advanced breast cancers had relatively many CNAs between their cancer tissues and germline samples on 17q23-rs6504950 (<i>P</i> = 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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":72593,"journal":{"name":"Ci ji yi xue za zhi = Tzu-chi medical journal","volume":"32 2","pages":"193-197"},"PeriodicalIF":0.0000,"publicationDate":"2019-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ef/65/TCMJ-32-193.PMC7137366.pdf","citationCount":"0","resultStr":"{\"title\":\"Copy number alternations of the 17q23-rs6504950 locus are associated with advanced breast cancers in Taiwanese women.\",\"authors\":\"Chien-Yu Lin, Shu-Fen Yang, Yu-Ling Ho, Cheng-Mao Ho\",\"doi\":\"10.4103/tcmj.tcmj_45_19\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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 <i>2q35-rs13387042</i>, <i>3p24-rs4973768</i>, <i>17q23-rs6504950</i>, and <i>fibroblast growth factor receptor 2</i> (<i>FGFR2</i>)-rs2981578, in Taiwanese women.</p><p><strong>Patients and methods: </strong>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 - <i>2q35</i>, <i>3p24</i>, <i>17q23</i>, and <i>FGFR2</i> - were obtained using TaqMan probes in the Applied Biosystems Inc., (ABI) StepOnePlus Real-Time Polymerase Chain Reaction instrument and CopyCaller<sup>®</sup> Software v1.0 (ABI, CA, USA).</p><p><strong>Results: </strong>The mean copy numbers output by CopyCaller<sup>®</sup> Software v1.0 of the cancer tissues on these susceptible loci (<i>2q35, 3p24, 17q23</i>, and <i>FGFR2</i>) 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 (<i>P</i> = 0.035). In addition, patients with advanced breast cancers had relatively many CNAs between their cancer tissues and germline samples on 17q23-rs6504950 (<i>P</i> = 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).</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":72593,\"journal\":{\"name\":\"Ci ji yi xue za zhi = Tzu-chi medical journal\",\"volume\":\"32 2\",\"pages\":\"193-197\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-06-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ef/65/TCMJ-32-193.PMC7137366.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ci ji yi xue za zhi = Tzu-chi medical journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/tcmj.tcmj_45_19\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/4/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ci ji yi xue za zhi = Tzu-chi medical journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/tcmj.tcmj_45_19","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/4/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Copy number alternations of the 17q23-rs6504950 locus are associated with advanced breast cancers in Taiwanese women.
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.
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