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2015-02

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/127263

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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https://doi.org/10.1038/ng.3185

Resum

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.

Matèries

Genoma humà, Genètica del desenvolupament, Cèl·lules epitelials, Càncer d'ovari, Nucleòtids

Matèries (anglès)

Human genome, Developmental genetics, Epithelial cells, Ovarian cancer, Nucleotides

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

KUCHENBAECKER, Karoline b., RAMUS, Susan j., TYRER, Jonathan p., LEE, Andrew, SHEN, Howard c., BEESLEY, Jonathan, LAWRENSON, Kate, MCGUFFOG, Lesley, HEALEY, Sue, LEE, Janet m., SPINDLER, Tassja j., LIN, Yvonne g., PEJOVIC, Tanja, BEAN, Yukie, LI, Qiyuan, COETZEE, Simon, HAZELETT, Dennis, MIRON, Alexander, SOUTHEY, Melissa c., TERRY, Mary beth, GOLDGAR, David e., BUYS, Saundra s., JANAVICIUS, Ramunas, DORFLING, Cecilia m., VAN RENSBURG, Elizabeth j., NEUHAUSEN, Susan l., DING, Yuan chun, HANSEN, Thomas v. o., JØNSON, Lars, GERDES, Anne marie, EJLERTSEN, Bent, BARROWDALE, Daniel, DENNIS, Joe, BENITEZ, Javier, OSORIO, Ana, GARCIA, Maria jose, KOMENAKA, Ian, BLANCO GUILLERMO, Ignacio, LÁZARO GARCÍA, Conxi, PUJANA GENESTAR, M. ángel. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. _Nature Genetics_. 2015. Vol. 47, núm. 2, pàgs. 164-171. [consulta: 23 de gener de 2026]. ISSN: 1061-4036. [Disponible a: https://hdl.handle.net/2445/127263]

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