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
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