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

• Type: Another Publication in an International Scientific Journal
• Date: 2017

Authors

Pinto, R (Author) Other; Assis, J (Author) Other; Nogueira, A (Author) Other; Pereira, C (Author) FMUP; Pereira, D (Author) Other; Rui Medeiros (Author) ICBAS

Journal

Title: Pharmacogenomics

Vol. 18

Pages: 1611-1625

ISSN: 1462-2416

Publisher: ASHLEY PUBLICATIONS LTD

Indexing

ISI Web of Knowledge - 6 Citations

Scopus - 6 Citations

Other information

Authenticus ID: P-00N-7RX

DOI: 10.2217/pgs-2017-0108

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 15