Rethinking ovarian cancer genomics: where genome-wide association studies stand?

被引：6
作者：
Pinto, Ricardo [1 ,2 ]
Assis, Joana [1 ,3 ]
Nogueira, Augusto [1 ,3 ]
Pereira, Carina [1 ,4 ]
Pereira, Deolinda [5 ]
Medeiros, Rui [1 ,6 ,7 ]
机构：
[1] Portuguese Inst Oncol, Res Ctr, Mol Oncol & Viral Pathol Grp, Edificio Labs 4 Piso, P-42004072 Oporto, Portugal
[2] Abel Salazar Inst Biomed Sci, ICBAS, Rua Jorge Viterbo Ferreira 228, P-4050313 Oporto, Portugal
[3] Univ Porto, Fac Med, FMUP, Alameda Prof Hernani Monteiro, P-4200319 Oporto, Portugal
[4] Univ Porto, Fac Med, Ctr Hlth Technol & Serv Res, CINTESIS, Rua Dr Placido da Costa, P-4200450 Oporto, Portugal
[5] Portuguese Inst Oncol, Oncol Dept, Rua Dr Antonio Bernardino Almeida, P-4200072 Oporto, Portugal
[6] Portuguese League AgainstCanc NRNorte, Res Dept, Estrada Interior Circunvalaco 6657, P-4200172 Oporto, Portugal
[7] FernandoPessoa Univ, Fac Hlth Sci, CEBIMED, Praca 9 Abril 349, P-4249004 Oporto, Portugal
来源：
PHARMACOGENOMICS | 2017年 / 18卷 / 17期
关键词：
GWAS; ovarian cancer; polymorphisms; validation; PLATINUM-BASED CHEMOTHERAPY; COMMON GENETIC-VARIATION; NEGATIVE BREAST-CANCER; SUSCEPTIBILITY LOCI; LUNG-CANCER; POOLED DNA; MISSING HERITABILITY; COLORECTAL-CANCER; ACTIVITY PROFILE; COMPLEX TRAITS;
D O I：
10.2217/pgs-2017-0108
中图分类号：
R9 [药学];
学科分类号：
1007 ;
摘要：
Genome-wide association studies (GWAS) allow the finding of genetic variants associated with several traits. Regarding ovarian cancer (OC), 15 GWAS have been conducted since 2009, with the discovery of 49 SNPs associated with disease susceptibility and 46 with impact in the clinical outcome of patients (p < 5.00 x 10(-2)). Among them, 14 variants reached the genome-wide significance (p < 5.00 x 10(-8)). Despite the results obtained, they should be validated in independent sets. So far, five validation studies have been conducted which could confirm the association of 12 OC susceptibility SNPs. Consequently, post-GWAS studies are crucial unravel the biological plausibility of GWAS' findings and the allelic spectrum of OC.
引用
收藏
页码：1611 / 1625
页数：15
相关论文
共 121 条
  • [11] The essence of SNPs
    Brookes, AJ
    [J]. GENE, 1999, 234 (02) : 177 - 186
  • [12] Chapter 11: Genome-Wide Association Studies
    Bush, William S.
    Moore, Jason H.
    [J]. PLOS COMPUTATIONAL BIOLOGY, 2012, 8 (12)
  • [13] Genetic markers for prediction of treatment outcomes in ovarian cancer
    Caiola, E.
    Broggini, M.
    Marabese, M.
    [J]. PHARMACOGENOMICS JOURNAL, 2014, 14 (05) : 401 - 410
  • [14] Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma
    Chahal, Harvind S.
    Wu, Wenting
    Ransohoff, Katherine J.
    Yang, Lingyao
    Hedlin, Haley
    Desai, Manisha
    Lin, Yuan
    Dai, Hong-Ji
    Qureshi, Abrar A.
    Li, Wen-Qing
    Kraft, Peter
    Hinds, David A.
    Tang, Jean Y.
    Han, Jiali
    Sarin, Kavita Y.
    [J]. NATURE COMMUNICATIONS, 2016, 7
  • [15] Replicating genotype-phenotype associations
    Chanock, Stephen J.
    Manolio, Teri
    Boehnke, Michael
    Boerwinkle, Eric
    Hunter, David J.
    Thomas, Gilles
    Hirschhorn, Joel N.
    Abecasis, Goncalo
    Altshuler, David
    Bailey-Wilson, Joan E.
    Brooks, Lisa D.
    Cardon, Lon R.
    Daly, Mark
    Donnelly, Peter
    Fraumeni, Joseph F., Jr.
    Freimer, Nelson B.
    Gerhard, Daniela S.
    Gunter, Chris
    Guttmacher, Alan E.
    Guyer, Mark S.
    Harris, Emily L.
    Hoh, Josephine
    Hoover, Robert
    Kong, C. Augustine
    Merikangas, Kathleen R.
    Morton, Cynthia C.
    Palmer, Lyle J.
    Phimister, Elizabeth G.
    Rice, John P.
    Roberts, Jerry
    Rotimi, Charles
    Tucker, Margaret A.
    Vogan, Kyle J.
    Wacholder, Sholom
    Wijsman, Ellen M.
    Winn, Deborah M.
    Collins, Francis S.
    [J]. NATURE, 2007, 447 (7145) : 655 - 660
  • [16] An adaptive permutation approach for genome-wide association study: evaluation and recommendations for use
    Che, Ronglin
    Jack, John R.
    Motsinger-Reif, Alison A.
    Brown, Chad C.
    [J]. BIODATA MINING, 2014, 7
  • [17] Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women
    Chen, Kexin
    Ma, Hongxia
    Li, Lian
    Zang, Rongyu
    Wang, Cheng
    Song, Fengju
    Shi, Tingyan
    Yu, Dianke
    Yang, Ming
    Xue, Wenqiong
    Dai, Juncheng
    Li, Shuang
    Zheng, Hong
    Wu, Chen
    Zhang, Ying
    Wu, Xiaohua
    Li, Dake
    Xue, Fengxia
    Li, Haixin
    Jiang, Zhi
    Liu, Jibin
    Liu, Yuexin
    Li, Pei
    Tan, Wen
    Han, Jing
    Jie, Jiang
    Hao, Quan
    Hu, Zhibin
    Lin, Dongxin
    Ma, Ding
    Jia, Weihua
    Shen, Hongbing
    Wei, Qingyi
    [J]. NATURE COMMUNICATIONS, 2014, 5
  • [18] Ovarian Cancer
    Cho, Kathleen R.
    Shih, Ie-Ming
    [J]. ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE, 2009, 4 : 287 - 313
  • [19] Genome-wide association studies in cancer-current and future directions
    Chung, Charles C.
    Magalhaes, Wagner C. S.
    Gonzalez-Bosquet, Jesus
    Chanock, Stephen J.
    [J]. CARCINOGENESIS, 2010, 31 (01) : 111 - 120
  • [20] CXCL12 chemokine genotypes as predictive biomarkers of ovarian cancer outcome
    Coelho, Ana
    Pereira, Deolinda
    Nogal, Ana
    Pinto, Daniela
    Catarino, Raquel
    Araujo, Antonio
    Medeiros, Rui
    [J]. MOLECULAR MEDICINE REPORTS, 2009, 2 (01) : 103 - 106
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