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Cross-cancer genome-wide analysis of lung, ovary, breast, prostate and colorectal cancer reveals novel pleiotropic associations
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2016 (English)In: Cancer Research, ISSN 0008-5472, E-ISSN 1538-7445, Vol. 76, no 17, 5103-5114 p.Article in journal (Refereed) Epub ahead of print
Abstract [en]

Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-staged approach to conduct genome-wide association studies for lung, ovary, breast, prostate and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung. We also identified a known breast cancer locus CASP8/ALS2CR12 associated with prostate cancer, a known cancer locus at CDKN2B-AS1 with different variants associated with lung adenocarcinoma and prostate cancer and confirmed the associations of a breast BRCA2 locus with lung and serous ovarian cancer. This is the largest study to date examining pleiotropy across multiple cancer-associated loci, identifying common mechanisms of cancer development and progression.

Place, publisher, year, edition, pages
2016. Vol. 76, no 17, 5103-5114 p.
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Cancer and Oncology
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URN: urn:nbn:se:umu:diva-122101DOI: 10.1158/0008-5472.CAN-15-2980PubMedID: 27197191OAI: oai:DiVA.org:umu-122101DiVA: diva2:937242
Available from: 2016-06-15 Created: 2016-06-15 Last updated: 2016-09-15Bibliographically approved

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Johansson, Mattias
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Department of Biobank Research
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