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

Pharmacogenomics
Ricardo PintoRui Medeiros

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.

References

Nov 2, 1994·Journal of the National Cancer Institute·D E GoldgarM H Skolnick
Jan 5, 1999·Genome Research·F S CollinsA Chakravarti
Jul 9, 1999·Gene·A J Brookes
Mar 10, 2001·Nature·R SachidanandamUNKNOWN International SNP Map Working Group
Apr 6, 2002·Journal of Cancer Research and Clinical Oncology·J HuoberD Wallwiener
May 25, 2002·Science·Stacey B GabrielDavid Altshuler
Nov 19, 2002·Journal of Human Genetics·Barkur S Shastry
Feb 7, 2003·The New England Journal of Medicine·William E Evans, Howard L McLeod
Feb 18, 2005·Nature Reviews. Genetics·William Y S WangJohn A Todd
Mar 12, 2005·Science·Robert J KleinJosephine Hoh
Aug 23, 2005·Biochemical and Biophysical Research Communications·Daniela PintoRui Medeiros
Dec 21, 2005·Biochemical and Biophysical Research Communications·Alexandra M SantosRui Medeiros
Feb 17, 2006·BMC Genomics·George KirovMichael C O'Donovan
Nov 23, 2006·Annals of Internal Medicine·Dan M RodenUNKNOWN Pharmacogenetics Research Network
Mar 16, 2007·American Journal of Human Genetics·Sebastian Zollner, Jonathan K Pritchard
Jun 8, 2007·Nature·UNKNOWN NCI-NHGRI Working Group on Replication in Association StudiesFrancis S Collins
Jul 11, 2007·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Henry H Q Heng
Aug 19, 2007·American Journal of Human Genetics·R Stephanie HuangM Eileen Dolan
Mar 20, 2008·JAMA : the Journal of the American Medical Association·Thomas A Pearson, Teri A Manolio
Apr 10, 2008·Nature Reviews. Genetics·Mark I McCarthyJoel N Hirschhorn
May 3, 2008·The Journal of Clinical Investigation·Teri A ManolioFrancis S Collins
Oct 10, 2008·Annual Review of Pathology·Kathleen R Cho, Ie-Ming Shih
Oct 22, 2008·Human Heredity·Bernd-Wolfgang IglAndreas Ziegler
Dec 17, 2008·Pharmacogenomics·Adam J W Paige, Robert Brown
Jan 2, 2009·Cancer Research·Jielin SunBao-Li Chang
Jan 30, 2009·JAMA : the Journal of the American Medical Association·Jun J YangMary V Relling
Apr 17, 2009·The New England Journal of Medicine·David B Goldstein
Apr 23, 2009·Molecular Oncology·Peter A FaschingUNKNOWN OCAC (Ovarian Cancer Association Consortium)
May 26, 2009·Nature Genetics·Muminatou JallowUNKNOWN Malaria Genomic Epidemiology Network
May 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Lucia A HindorffTeri A Manolio
Oct 9, 2009·Nature·Teri A ManolioPeter M Visscher
Nov 13, 2009·Carcinogenesis·Charles C ChungStephen J Chanock
Mar 20, 2010·Nature Reviews. Genetics·Ann K Daly
Mar 20, 2010·Journal of Human Genetics·Chee Seng KuKee Seng Chia
Mar 25, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Elizabeth M AzzatoPeter Kraft
May 11, 2010·Statistical Science : a Review Journal of the Institute of Mathematical Statistics·Peter KraftJohn P A Ioannidis
Jun 30, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Zsofia K StadlerKenneth Offit
Jul 6, 2010·American Journal of Human Genetics·Jimmy Z LiuStuart Macgregor
Jul 20, 2010·Pharmacogenetics and Genomics·Alison A Motsinger-ReifDan M Roden
Jul 22, 2010·The New England Journal of Medicine·Teri A Manolio
Sep 21, 2010·Nature Genetics·Kelly L BoltonPaul D P Pharoah
Mar 25, 2011·The New England Journal of Medicine·Liewei WangRichard M Weinshilboum

❮ Previous
Next ❯

Citations

Oct 29, 2020·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Jéssica Vilarinho CardosoRui Medeiros
Mar 6, 2021·The Journal of Sports Medicine and Physical Fitness·Hugo-Henrique SilvaRui Medeiros

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping

Software Mentioned

Reactome

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.