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A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh E, Zhang T, O'Brien A, Hoskins JW, Collins I, Eiser D, Yuan C; PanScan Consortium; PanC4 Consortium; Risch HA, Jacobs EJ, Li D, Du M, Stolzenberg-Solomon RZ, Klein AP, Smith JP, Wolpin BM, Chanock SJ, Shi J, Petersen GM, Westlake CJ, Amundadottir LT. Jermusyk A, et al. Am J Hum Genet. 2021 Oct 7;108(10):1852-1865. doi: 10.1016/j.ajhg.2021.09.002. Epub 2021 Sep 23. Am J Hum Genet. 2021. PMID: 34559995 Free PMC article.
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies.
Elliott KS, Zeggini E, McCarthy MI, Gudmundsson J, Sulem P, Stacey SN, Thorlacius S, Amundadottir L, Grönberg H, Xu J, Gaborieau V, Eeles RA, Neal DE, Donovan JL, Hamdy FC, Muir K, Hwang SJ, Spitz MR, Zanke B, Carvajal-Carmona L, Brown KM; Australian Melanoma Family Study Investigators; Hayward NK, Macgregor S, Tomlinson IP, Lemire M, Amos CI, Murabito JM, Isaacs WB, Easton DF, Brennan P; PanScan Consortium; Barkardottir RB, Gudbjartsson DF, Rafnar T, Hunter DJ, Chanock SJ, Stefansson K, Ioannidis JP. Elliott KS, et al. PLoS One. 2010 May 28;5(5):e10858. doi: 10.1371/journal.pone.0010858. PLoS One. 2010. PMID: 20526366 Free PMC article.
Winner's Curse Correction and Variable Thresholding Improve Performance of Polygenic Risk Modeling Based on Genome-Wide Association Study Summary-Level Data.
Shi J, Park JH, Duan J, Berndt ST, Moy W, Yu K, Song L, Wheeler W, Hua X, Silverman D, Garcia-Closas M, Hsiung CA, Figueroa JD, Cortessis VK, Malats N, Karagas MR, Vineis P, Chang IS, Lin D, Zhou B, Seow A, Matsuo K, Hong YC, Caporaso NE, Wolpin B, Jacobs E, Petersen GM, Klein AP, Li D, Risch H, Sanders AR, Hsu L, Schoen RE, Brenner H; MGS (Molecular Genetics of Schizophrenia) GWAS Consortium; GECCO (The Genetics and Epidemiology of Colorectal Cancer Consortium); GAME-ON/TRICL (Transdisciplinary Research in Cancer of the Lung) GWAS Consortium; PRACTICAL (PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations) Consortium; PanScan Consortium; GAME-ON/ELLIPSE Consortium; Stolzenberg-Solomon R, Gejman P, Lan Q, Rothman N, Amundadottir LT, Landi MT, Levinson DF, Chanock SJ, Chatterjee N. Shi J, et al. PLoS Genet. 2016 Dec 30;12(12):e1006493. doi: 10.1371/journal.pgen.1006493. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 28036406 Free PMC article.