Rethinking ovarian cancer genomics: where genome-wide association studies stand?-Reference-Cited by-同舟云学术

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

Published:2017-11 Issue:17 Volume:18 Page:1611-1625
ISSN:1462-2416
Container-title:Pharmacogenomics
language:en
Short-container-title:Pharmacogenomics

Author:

Pinto Ricardo¹²,Assis Joana¹³,Nogueira Augusto¹³,Pereira Carina¹⁴,Pereira Deolinda⁵,Medeiros Rui¹⁶⁷

Affiliation:

1. Molecular Oncology & Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edifício Laboratórios. 4° piso, Rua Dr. António Bernardino de Almeida, 4200–4072, Porto, Portugal

2. ICBAS, Abel Salazar Institute for the Biomedical Sciences, Rua de Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal

3. FMUP, Faculty of Medicine, Porto University, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Portugal

4. CINTESIS, Center for Health technology and Services Research, Faculty of Medicine, Porto University, Rua Dr. Plácido da Costa, 4200-450, Porto, Portugal

5. Oncology Department, Portuguese Institute of Oncology, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal

6. Research Department, Portuguese League AgainstCancer (NRNorte), Estrada Interior da Circunvalação, 6657, 4200-172, Porto, Portugal

7. CEBIMED, Faculty of Health Sciences, FernandoPessoa University, Praça 9 de Abril, 349, 4249-004, Porto, Portugal

Abstract

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 × 10-2). Among them, 14 variants reached the genome-wide significance (p < 5.00 × 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.

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

Link

https://www.futuremedicine.com/doi/pdf/10.2217/pgs-2017-0108

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