학술논문

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
Document Type
article
Author
Earp, Madalene AKelemen, Linda EMagliocco, Anthony MSwenerton, Kenneth DChenevix-Trench, GeorgiaAustralian Cancer StudyAustralian Ovarian Cancer Study GroupLu, YiHein, AlexanderEkici, Arif BBeckmann, Matthias WFasching, Peter ALambrechts, DietherDespierre, EvelynVergote, IgnaceLambrechts, SandrinaDoherty, Jennifer ARossing, Mary AnneChang-Claude, JennyRudolph, AnjaFriel, GraceMoysich, Kirsten BOdunsi, KunleSucheston-Campbell, LaraLurie, GalinaGoodman, Marc TCarney, Michael EThompson, Pamela JRunnebaum, Ingo BDürst, MatthiasHillemanns, PeterDörk, ThiloAntonenkova, NataliaBogdanova, NataliaLeminen, ArtoNevanlinna, HeliPelttari, Liisa MButzow, RalfBunker, Clareann HModugno, FrancesmaryEdwards, Robert PNess, Roberta Bdu Bois, AndreasHeitz, FlorianSchwaab, IraHarter, PhilippKarlan, Beth YWalsh, ChristineLester, JennyJensen, AllanKjær, Susanne KHøgdall, Claus KHøgdall, EstridLundvall, LeneSellers, Thomas AFridley, Brooke LGoode, Ellen LCunningham, Julie MVierkant, Robert AGiles, Graham GBaglietto, LauraSeveri, GianlucaSouthey, Melissa CLiang, DongWu, XifengLu, KarenHildebrandt, Michelle ATLevine, Douglas ABisogna, MariaSchildkraut, Joellen MIversen, Edwin SWeber, Rachel PalmieriBerchuck, AndrewCramer, Daniel WTerry, Kathryn LPoole, Elizabeth MTworoger, Shelley SBandera, Elisa VChandran, UrmilaOrlow, IreneOlson, Sara HWik, ElisabethSalvesen, Helga BBjorge, LineHalle, Mari Kvan Altena, Anne MAben, Katja KHKiemeney, Lambertus AMassuger, Leon FAGPejovic, TanjaBean, Yukie TCybulski, CezaryGronwald, JacekLubinski, JanWentzensen, NicolasBrinton, Louise ALissowska, JolantaGarcia-Closas, MontserratDicks, EdDennis, Joe
Source
Human Genetics. 133(5)
Subject
Biological Sciences
Biomedical and Clinical Sciences
Oncology and Carcinogenesis
Genetics
Rare Diseases
Prevention
Ovarian Cancer
Human Genome
Cancer
2.1 Biological and endogenous factors
Aetiology
Alleles
Carcinoma
Ovarian Epithelial
DNA
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Neoplasms
Glandular and Epithelial
Ovarian Neoplasms
Polymorphism
Single Nucleotide
Quality Control
Australian Cancer Study
Australian Ovarian Cancer Study Group
Ovarian Cancer Association Consortium
Complementary and Alternative Medicine
Paediatrics and Reproductive Medicine
Genetics & Heredity
Reproductive medicine
Language
Abstract
Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P