scholarly journals Canonical and alternative transcript expression of PAX6 and CXCR4 in pancreatic cancer

2017 ◽  
Vol 13 (6) ◽  
pp. 4027-4034 ◽  
Author(s):  
Elizabeth C. Little ◽  
Jennifer D. Kubic ◽  
Ravi Salgia ◽  
Paul J. Grippo ◽  
Deborah Lang
Keyword(s):  
Pancreatic Cancer ◽  
Alternative Transcript ◽  
Transcript Expression

scholarly journals Breast Cancer Patient Prognosis Is Determined by the Interplay between TP53 Mutation and Alternative Transcript Expression: Insights from TP53 Long Amplicon Digital PCR Assays

Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1531
Author(s):  
Annette Lasham ◽  
Nicholas Knowlton ◽  
Sunali Y. Mehta ◽  
Antony W. Braithwaite ◽  
Cristin G. Print
Keyword(s):  
Breast Cancer ◽  
Gene Locus ◽  
Tp53 Mutation ◽  
P53 Protein ◽  
Tp53 Gene ◽  
Digital Pcr ◽  
Protein Isoforms ◽  
Alternative Transcript ◽  
Transcript Expression ◽  
Splice Sites

The TP53 gene locus is capable of producing multiple RNA transcripts encoding the different p53 protein isoforms. We recently described multiplex long amplicon droplet digital PCR (ddPCR) assays to quantify seven of eight TP53 reference transcripts in human tumors. Here, we describe a new long amplicon ddPCR assay to quantify expression of the eighth TP53 reference transcript encoding ∆40p53α. We then applied these assays, alongside DNA sequencing of the TP53 gene locus, to tumors from a cohort of New Zealand (NZ) breast cancer patients. We found a high prevalence of mutations at TP53 splice sites in the NZ breast cancer cohort. Mutations at TP53 intron 4 splice sites were associated with overexpression of ∆133TP53 transcripts. Cox proportional hazards survival analysis showed that interplay between TP53 mutation status and expression of TP53 transcript variants was significantly associated with patient outcome, over and above standard clinical and pathological information. In particular, patients with no TP53 mutation and a low ratio of TP53 transcripts t2 to t1, which derive from alternative intron 1 acceptor splice sites, had a remarkably good outcome. We suggest that this type of analysis, integrating mutation and transcript expression, provides a step-change in our understanding of TP53 in cancer.

Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variants

2019 ◽  
Vol 40 (4) ◽  
pp. 472-482 ◽  
Author(s):  
Nicole Köger ◽  
Angela Brieger ◽  
Inga M. Hinrichsen ◽  
Stefan Zeuzem ◽  
Guido Plotz
Keyword(s):  
Genetic Variants ◽  
Alternative Transcript ◽  
Transcript Expression ◽  
Promoter Function

Expression of the melanoma antigen-encoding gene in pancreatic cancer

2001 ◽  
Vol 120 (5) ◽  
pp. A162-A162
Author(s):  
A KUTUP ◽  
S HOSCH ◽  
S PAPE ◽  
P SCHEUNEMANN ◽  
W KNOEFEL ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Melanoma Antigen ◽  
Encoding Gene

The findings of proton MR spectroscopy in chronic focal pancreatitis and pancreatic cancer

2001 ◽  
Vol 120 (5) ◽  
pp. A610-A610
Author(s):  
D LEE ◽  
J LEE ◽  
S JEONG ◽  
K KWON ◽  
W CHOI ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Mr Spectroscopy ◽  
Proton Mr Spectroscopy
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