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

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.

journal_name

Pharmacogenomics

journal_title

Pharmacogenomics

authors

Pinto R,Assis J,Nogueira A,Pereira C,Pereira D,Medeiros R

doi

10.2217/pgs-2017-0108

subject

Has Abstract

pub_date

2017-11-01 00:00:00

pages

1611-1625

issue

17

eissn

1462-2416

issn

1744-8042

journal_volume

18

pub_type

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