2q36.3与接受化疗的雌激素受体阴性乳腺癌患者的预后相关。
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.
作者信息
Li Jingmei, Lindström Linda S, Foo Jia N, Rafiq Sajjad, Schmidt Marjanka K, Pharoah Paul D P, Michailidou Kyriaki, Dennis Joe, Bolla Manjeet K, Wang Qin, Van 't Veer Laura J, Cornelissen Sten, Rutgers Emiel, Southey Melissa C, Apicella Carmel, Dite Gillian S, Hopper John L, Fasching Peter A, Haeberle Lothar, Ekici Arif B, Beckmann Matthias W, Blomqvist Carl, Muranen Taru A, Aittomäki Kristiina, Lindblom Annika, Margolin Sara, Mannermaa Arto, Kosma Veli-Matti, Hartikainen Jaana M, Kataja Vesa, Chenevix-Trench Georgia, Phillips Kelly-Anne, McLachlan Sue-Anne, Lambrechts Diether, Thienpont Bernard, Smeets Ann, Wildiers Hans, Chang-Claude Jenny, Flesch-Janys Dieter, Seibold Petra, Rudolph Anja, Giles Graham G, Baglietto Laura, Severi Gianluca, Haiman Christopher A, Henderson Brian E, Schumacher Fredrick, Le Marchand Loic, Kristensen Vessela, Alnæs Grethe I Grenaker, Borresen-Dale Anne-Lise, Nord Silje, Winqvist Robert, Pylkäs Katri, Jukkola-Vuorinen Arja, Grip Mervi, Andrulis Irene L, Knight Julia A, Glendon Gord, Tchatchou Sandrine, Devilee Peter, Tollenaar Robert, Seynaeve Caroline, Hooning Maartje, Kriege Mieke, Hollestelle Antoinette, van den Ouweland Ans, Li Yi, Hamann Ute, Torres Diana, Ulmer Hans U, Rüdiger Thomas, Shen Chen-Yang, Hsiung Chia-Ni, Wu Pei-Ei, Chen Shou-Tung, Teo Soo Hwang, Taib Nur Aishah Mohd, Har Yip Cheng, Fuang Ho Gwo, Matsuo Keitaro, Ito Hidemi, Iwata Hiroji, Tajima Kazuo, Kang Daehee, Choi Ji-Yeob, Park Sue K, Yoo Keun-Young, Maishman Tom, Tapper William J, Dunning Alison, Shah Mitul, Luben Robert, Brown Judith, Khor Chiea Chuen, Eccles Diana M, Nevanlinna Heli, Easton Douglas, Humphreys Keith, Liu Jianjun, Hall Per, Czene Kamila
机构信息
1] Human Genetics, Genome Institute of Singapore, 60 Biopolis Street 02-01, Singapore 138672, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore, MD3, 16 Medical Drive, Singapore 117597, Singapore [3].
1] Department of Surgery, University of California at San Francisco (UCSF), San Francisco, California 94143, USA [2] Department of Biosciences and Nutrition, Karolinska Institutet and University Hospital, SE-171 77 Stockholm, Sweden [3].
出版信息
Nat Commun. 2014 Jun 17;5:4051. doi: 10.1038/ncomms5051.
Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204_A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10(-9)). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities.
基于大规模人群的注册研究表明，乳腺癌预后具有遗传性。在此，我们分析了参与人类免疫和炎症的基因的单核苷酸多态性（SNP），作为乳腺癌生存预后标志物的候选基因。这些分析涉及来自14项欧洲研究的1804例接受化疗的雌激素受体（ER）阴性患者（279例发生事件），该研究是先前大规模基因分型实验的一部分，属于协作肿瘤基因-环境研究（COGS）计划。我们使用亚洲COGS样本（n = 522，53例事件）和散发性与遗传性乳腺癌结局前瞻性研究（POSH）样本（n = 315，108例事件）进行重复验证。发现CCL20（2q36.3）附近的Rs4458204_A在全基因组显著水平上与乳腺癌特异性死亡相关（n = 2641，440例事件，合并等位基因风险比（HR）= 1.81（1.49 - 2.19）；趋势P值 = 1.90×10⁻⁹）。这种与生存相关的变异体可成为定制治疗的理想靶点，也可能增强我们目前的预后预测能力。
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