2021
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, Consortium P, Consortium P, Albanes D, Arslan A, Gurrea A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Buring J, Canzian F, Gallinger S, Gaziano J, Giles G, Goodman P, Johansson M, Kooperberg C, LeMarchand L, Malats N, Neale R, Panico S, Peters U, Real F, Shu X, Sund M, Thornquist M, Tjønneland A, Travis R, Van Den Eeden S, Visvanathan K, Zheng W, Kraft P, Risch H, Jacobs E, Li D, Du M, Stolzenberg-Solomon R, Klein A, Smith J, Wolpin B, Chanock S, Shi J, Petersen G, Westlake C, Amundadottir L. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. American Journal Of Human Genetics 2021, 108: 1852-1865. PMID: 34559995, PMCID: PMC8546220, DOI: 10.1016/j.ajhg.2021.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesB2 proteinEndoplasmic reticulumDeletion allelePremature stop codonHuman genomeGWAS datasetsSuch lociRisk lociAssociation studiesStop codonER stressCTRB2Pancreatic ductal adenocarcinomaBp deletionExon 6European ancestryLociExon 7Intracellular accumulationExon 5ProteinGermline variantsChymotrypsin activityAlleles
2020
Associations between Genetically Predicted Blood Protein Biomarkers and Pancreatic Cancer Risk
Zhu J, Shu X, Guo X, Liu D, Bao J, Milne RL, Giles GG, Wu C, Du M, White E, Risch HA, Malats N, Duell EJ, Goodman PJ, Li D, Bracci P, Katzke V, Neale RE, Gallinger S, Van Den Eeden SK, Arslan AA, Canzian F, Kooperberg C, Freeman L, Scelo G, Visvanathan K, Haiman CA, Le Marchand L, Yu H, Petersen GM, Stolzenberg-Solomon R, Klein AP, Cai Q, Long J, Shu XO, Zheng W, Wu L. Associations between Genetically Predicted Blood Protein Biomarkers and Pancreatic Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 1501-1508. PMID: 32439797, PMCID: PMC7334065, DOI: 10.1158/1055-9965.epi-20-0091.Peer-Reviewed Original ResearchConceptsPancreatic ductal adenocarcinomaProtein quantitative trait lociQuantitative trait lociRisk variantsBlood protein biomarkersPathway enrichment analysisPotential target genesCancer-related pathwaysPDAC riskProtein biomarkersTrait lociTarget genesPancreatic Cancer Case-Control ConsortiumPancreatic Cancer Cohort ConsortiumEnrichment analysisProteinGenetic instrumentsPancreatic cancer riskProtein levelsGenesPDAC developmentProtein biomarker candidatesRisk factorsDuctal adenocarcinomaLethal malignancy