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在2012年10月29日在线出版的《临床肿瘤学杂志》
在2012年10月29日在线出版的《临床肿瘤学杂志》(Journal of Clinical Oncology)上，由丹麦哥本哈根大学Maren Weischer率领的一个国际性研究团队，针对CHEK2*1100delC杂合性与早期死亡、乳腺癌特异性死亡的风险增加，及其与首次发现乳腺癌后继发乳腺癌风险有关的假说进行了一项调查。
研究人员从参与乳腺癌联合会的22项研究中，共检测出25,571例基因型为CHEK2*1100delC的浸润性乳腺癌白人女性患者，并对她们进行了为期20年的观察(平均6.6 年)。他们在前瞻性研究中，通过雌激素受体状态对早期死亡风险以及乳腺癌特异性死亡，以及发现乳腺癌后的继发风险进行了调查。
研究发现，459例(1.8%)患者存在CHEK2*1100delC杂合性。在雌激素受体呈阳性的乳腺癌女性患者中，经多因素校正后，杂合子对非携带者的早期死亡风险比为1.43 (95% CI, 1.12至1.82; log-rank P = .004)，乳腺癌特异性死亡的风险比为1.63 (95% CI, 1.24至2.15; log-rank P < .001)。在所有女性患者中，继发乳腺癌的风险比为2.77 (95% CI, 2.00至3.83; log-rank P < .001)，而在雌激素受体呈阳性、首次发现乳腺癌的患者中，这一数字则增加到3.52 (95% CI, 2.35 至5.27; log-rank P < .001)。
研究人员认为，对于雌激素受体呈阳性的乳腺癌女性患者，CHEK2*1100delC杂合性增加1.4倍的早期死亡风险、1.6倍的乳腺癌特异性死亡风险、3.5倍的继发乳腺癌风险。通过对乳腺癌女性患者进行的一系列广泛研究，该研究堪称有案可稽为数不多的影响长期预后遗传因素的相关实例之一。
原文摘要：
CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer.
J Clin Oncol 2012 :
Weischer M Nordestgaard BG Pharoah P Bolla MK Nevanlinna H Vant Veer LJ Garcia-Closas M Hopper JL Hall P Andrulis IL Devilee P Fasching PA Anton-Culver H Lambrechts D Hooning M Cox A Giles GG Burwinkel B Lindblom A Couch FJ Mannermaa A Grenaker Alnaes G John EM Dork T Flyger H Dunning AM Wang Q Muranen TA van Hien R Figueroa J Southey MC Czene K Knight JA Tollenaar RA Beckmann MW Ziogas A Christiaens MR Collée JM Reed MW Severi G Marme F Margolin S Olson JE Kosma VM Kristensen VN Miron A Bogdanova N Shah M Blomqvist C Broeks A Sherman M Phillips KA Li J Liu J Glendon G Seynaeve C Ekici AB Leunen K Kriege M Cross SS Baglietto L Sohn C Wang X Kataja V B?rresen-Dale AL Meyer A Easton DF Schmidt MK Bojesen SE
Maren Weischer, B?rge G. Nordestgaard, Henrik Flyger, and Stig E. Bojesen, University of Copenhagen, Copenhagen, Denmark; Paul Pharoah, Manjeet K. Bolla, Alison M. Dunning, Qin Wang, Mitul Shah, and Douglas F. Easton, University of Cambridge, Cambridge; Montserrat Garcia-Closas, Institute of Cancer Research, London; Angela Cox, Malcolm W.R. Reed, and Simon S. Cross, University of Sheffield, Sheffield, United Kingdom; Heli Nevanlinna, Taru A. Muranen, and Carl Blomqvist, University of Helsinki and Helsinki University Central Hospital, Helsinki; Arto Mannermaa, Veli-Matti Kosma, and Vesa Kataja, University of Eastern Finland; Arto Mannermaa, Veli-Matti Kosma, and Vesa Kataja, Kuopio University Hospital, Kuopio, Finland; Laura J. van t Veer, Richard van Hien, Annegien Broeks, and Marjanka K. Schmidt, Netherlands Cancer Institute, Amsterdam; Peter Devilee and Rob A.E.M. Tollenaar, Leiden University Medical Center, Leiden; Maartje Hooning, Johanna Margriet Collée, and Mieke Kriege, Erasmus University Medical Center; Caroline Seynaeve, Erasmus Medical Center-Daniel den Hoed Cancer Center, Rotterdam, the Netherlands; John L. Hopper, Graham G. Giles, Melissa C. Southey, Gianluca Severi, and Laura Baglietto, University of Melbourne; Graham G. Giles, Gianluca Severi, and Laura Baglietto, the Cancer Council Victoria, Melbourne; Kelly-Anne Phillips, Peter MacCallum Cancer Centre and University of Melbourne, East Melbourne, Victoria, Australia; Per Hall, Annika Lindblom, Kamila Czene, and Sara Margolin, Karolinska Instituttet, Stockholm, Sweden; Irene L. Andrulis, Julia A. Knight, and Gord Glendon, Mount Sinai Hospital, Toronto, Ontario, Canada; Peter A. Fasching, Matthias W. Beckmann, and Arif B. Ekici, Friedrich-Alexander University Erlangen-Nuremberg; Peter A. Fasching and Matthias W. Beckmann, Comprehensive Cancer Center Erlangen-Nuremberg, Erlangen; Barbara Burwinkel, Frederik Marme, and Christof Sohn, University of Heidelberg; Barbara Burwinkel, German Cancer Research Center, Heidelberg; Thilo Dork, Natalia Bogdanova, and Andreas Meyer, Hannover Medical School, Hannover, Germany; Peter A. Fasching, University of California at Los Angeles, Los Angeles; Hoda Anton-Culver and Argyrios Ziogas, University of California Irvine, Irvine; Esther M. John and Vessela N. Kristensen, Cancer Prevention Institute of California, Fremont, CA; Diether Lambrechts, Vesalius Research Center, Vlaams Instituut voor Biotechnologie and Katholieke Universiteit (KU) Leuven; Marie-Rose Christiaens and Karin Leunen, University Hospital Leuven, KU Leuven, Leuven, Belgium; Fergus J. Couch, Janet E. Olson, and Xianshu Wang, Mayo Clinic, Rochester, MN; Grethe Grenaker Alnaes and Anne-Lise B?rresen-Dale, Norwegian Radium Hospital, Oslo University Hospital, University of Oslo, Oslo, Norway; Jonine Figueroa and Mark Sherman, National Cancer Institute, Bethesda, MD; Alexander Miron, Dana-Farber Cancer Institute, Boston, MA; and Jingmei Li and Jianjun Liu, Genome Institute of Singapore, Singapore.
链接：http://www.ncbi.nlm.nih.gov/m/pubmed/23109706/
来源：丁香园
摘自网址：http://www.360zhyx.com/home-research-index-rid-26007.shtml
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