Copyright ©The Author(s) 2017.
World J Gastroenterol. Jun 14, 2017; 23(22): 3978-3998
Published online Jun 14, 2017. doi: 10.3748/wjg.v23.i22.3978
Table 3 Mutations studies in gallbladder cancer by high throughput methods
PlatformNumber of samplesStudy populationResearch plannedKey findingsRef.
Sequenom Mass ARRAY technology49 FFPEIndia390 mutations in 30 genesPIK3CA (4%), KRAS (2%), CTNNB1 (4%), TP53 (18%)[95]
Mass spectroscopy-based57 FFPEMD Anderson Centre159 mutations in 33 genes14 hotspot mutations in 9 cases including (KRAS, NRAS, PIK3CA, IDH1, ALK, MET)[94]
26 mutations in 15cases
Next-generation sequencing (NGS)15 FFPENGS of 182 cancer-related genes(P53, STK11, RICTOR,TSC2, FGF3-TACC fusion, FGF10 amplification)[94]
Preponderance of mutations involving the PI3 kinase pathway
Whole Exome and transcriptome Sequencing29 Fresh FrozenJapan64 non silent mutations signaturesEGFR, ERBB3, PTEN, ARID2, MLL2,[96]
APOBEC-associated mutation signature were observed in GBC
Exome sequencing and targeted gene sequencing57 Fresh FrozenChinaWhole exome sequencingTP53 (47.1%), KRAS (7.8%) and[93]
ERBB3 (11.8%)
ERBB pathway genes mostly mutated