Crossing borders: A systematic review with quantitative analysis of genetic mutations of carcinomas of the biliary tract

Autor: Roos, E, Soer, E C, Klompmaker, S, Meijer, Laura, Besselink, M G, Giovannetti, E, Heger, M, Kazemier, G, Klümpen, H J, Takkenberg, R B, Wilmink, H, Würdinger, T, Dijk, F, van Gulik, T M, Verheij, J, van de Vijver, M J, Afd Pharmaceutics, Sub Membrane Biochemistry & Biophysics, Pharmaceutics
Přispěvatelé: Afd Pharmaceutics, Sub Membrane Biochemistry & Biophysics, Pharmaceutics
Rok vydání: 2019
Předmět:
0301 basic medicine
Phosphofructokinase-2/genetics
Biliary Tract Neoplasms/genetics
Chromogranins/genetics
Phosphofructokinase-2
Cell of origin
Isocitrate Dehydrogenase/genetics
Phosphoric Monoester Hydrolases/genetics
Receptor
Transforming Growth Factor-beta Type II/genetics
Cholangiocarcinoma
0302 clinical medicine
Neoplasm Proteins/genetics
GTP-Binding Protein alpha Subunits
Gs
Medicine
biology
Hematology
GTP-Binding Protein alpha Subunits
Isocitrate Dehydrogenase
Neoplasm Proteins
medicine.anatomical_structure
Biliary Tract Neoplasms
Oncology
Biliary tract
030220 oncology & carcinogenesis
Cholangiocarcinoma/genetics
Receptor
GTP-Binding Protein alpha Subunits
Gs/genetics
IDH1
Adenomatous Polyposis Coli Protein
Genomics
IDH2
Transforming Growth Factor-beta Type II/genetics
03 medical and health sciences
GNAS complex locus
Chromogranins
Humans
Adenomatous Polyposis Coli Protein/genetics
Membrane Proteins/genetics
Gene
business.industry
Gallbladder
Receptor
Transforming Growth Factor-beta Type II
Membrane Proteins
Phosphoric Monoester Hydrolases
Gs/genetics
030104 developmental biology
Mutation
Cancer research
biology.protein
business
Zdroj: Critical Reviews in Oncology/Hematology, 140, 8. Elsevier Ireland Ltd.
Roos, E, Soer, E C, Klompmaker, S, Meijer, L L, Besselink, M G, Giovannetti, E, Heger, M, Kazemier, G, Klümpen, H J, Takkenberg, R B, Wilmink, H, Würdinger, T, Dijk, F, van Gulik, T M, Verheij, J & van de Vijver, M J 2019, ' Crossing borders: A systematic review with quantitative analysis of genetic mutations of carcinomas of the biliary tract ', Critical Reviews in Oncology/Hematology, vol. 140, pp. 8-16 . https://doi.org/10.1016/j.critrevonc.2019.05.011
ISSN: 1879-0461
2000-2017
1040-8428
DOI: 10.1016/j.critrevonc.2019.05.011
Popis: Biliary tract carcinoma (BTC) comprises gallbladder and intra-/extrahepatic cholangiocarcinoma (GBC, ICC, EHC), which are currently classified by anatomical origin. Better understanding of the mutational profile of BTCs might refine classification and improve treatment. We performed a systematic review of studies reporting on mutational profiling of BTC. We included articles reporting on whole-exome/whole-genome-sequencing (WES/WGS) and targeted sequencing (TS) of BTC, published between 2000-2017. Pooled mutation proportions were calculated, stratified by anatomical region and sequencing technique. A total of 25 studies with 1806 patients were included. Overall, TP53 was the most commonly mutated gene in BTC. GBC was associated with mutations in PFKFB3, PLXN2 and PGAP1. Mutations in IDH1, IDH2 and FGFR fusions almost exclusively occurred in ICC patients. Mutations in APC, GNAS and TGFBR2 occurred exclusively in EHC patients. In conclusion, subtypes of BTCs exhibit minor differences in mutational profile, which is likely influenced by the cell of origin.
Databáze: OpenAIRE
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