Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer
Pancreatic enzymes
DOI:
10.1073/pnas.1720588115
Publication Date:
2018-04-19T15:15:22Z
AUTHORS (33)
ABSTRACT
To evaluate whether germline variants in genes encoding pancreatic secretory enzymes contribute to cancer susceptibility, we sequenced the coding regions of CPB1 and other known pancreatitis susceptibility (PRSS1, CPA1, CTRC, SPINK1) a hospital series cases controls. Variants CPB1, CPA1 (encoding carboxypeptidase B1 A1), CTRC were evaluated second set with familial More deleterious variants, defined as having impaired protein secretion induction endoplasmic reticulum (ER) stress transfected HEK 293T cells, found (5/986, 0.5%) than controls (0/1,045, P = 0.027). Among cases, ER stress-inducing 4 593 (0.67%) vs. 0 967 additional (P 0.020), combined prevalence 9/1,579 0/2,012 < 0.01). also [7/1,546 1/2,012; 0.025; odds ratio, 9.36 (95% CI, 1.15-76.02)]. Overall, 16 (1%) 1,579 had an or variant, compared 1 2,068 0.00001). No candidate statistically significant differences variant between Our study indicates are associated implicate acinar cells development.
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