scholarly journals Determination of irinotecan, SN-38 and SN-38 glucuronide using HPLC/MS/MS: Application in a clinical pharmacokinetic and personalized medicine in colorectal cancer patients

2017 ◽  
Vol 32 (1) ◽  
pp. e22217 ◽  
Author(s):  
Chalirmporn Atasilp ◽  
Pichai Chansriwong ◽  
Ekapob Sirachainan ◽  
Thanyanan Reungwetwattana ◽  
Apichaya Puangpetch ◽  
...  
2021 ◽  
Vol 11 (6) ◽  
pp. 535
Author(s):  
Bader Almuzzaini ◽  
Jahad Alghamdi ◽  
Alhanouf Alomani ◽  
Saleh AlGhamdi ◽  
Abdullah A. Alsharm ◽  
...  

Biomarker discovery would be an important tool in advancing and utilizing the concept of precision and personalized medicine in the clinic. Discovery of novel variants in local population provides confident targets for developing biomarkers for personalized medicine. We identified the need to generate high-quality sequencing data from local colorectal cancer patients and understand the pattern of occurrence of variants. In this report, we used archived samples from Saudi Arabia and used the AmpliSeq comprehensive cancer panel to identify novel somatic variants. We report a comprehensive analysis of next-generation sequencing results with a coverage of >300X. We identified 466 novel variants which were previously unreported in COSMIC and ICGC databases. We analyzed the genes associated with these variants in terms of their frequency of occurrence, probable pathogenicity, and clinicopathological features. Among pathogenic somatic variants, 174 were identified for the first time in the large intestine. APC, RET, and EGFR genes were most frequently mutated. A higher number of variants were identified in the left colon. Occurrence of variants in ERBB2 was significantly correlated with those of EGFR and ATR genes. Network analyses of the identified genes provide functional perspective of the identified genes and suggest affected pathways and probable biomarker candidates. This report lays the ground work for biomarker discovery and identification of driver gene mutations in local population.


2016 ◽  
Vol 5 (7) ◽  
pp. 1361-1372 ◽  
Author(s):  
Veronika I. Butvilovskaya ◽  
Sofya B. Popletaeva ◽  
Vladimir R. Chechetkin ◽  
Zhanna I. Zubtsova ◽  
Marya V. Tsybulskaya ◽  
...  

2009 ◽  
Vol 8 (4) ◽  
pp. 509-517 ◽  
Author(s):  
Hiromu Naruse ◽  
Noriko Ikawa ◽  
Kiyoshi Yamaguchi ◽  
Yusuke Nakamura ◽  
Masami Arai ◽  
...  

2013 ◽  
Vol 24 ◽  
pp. i7
Author(s):  
F. Mouliere ◽  
S. El Messaoudi ◽  
C. Gongora ◽  
P.J. Lamy ◽  
M. del Rio ◽  
...  

2020 ◽  
Author(s):  
Amira Salah El-Din Youssef ◽  
Auhood Nassar ◽  
Mai M. Lotfy ◽  
Mohamed A. Abdel-Fattaf ◽  
Abdel-Rahman N. Zekri

2018 ◽  
Vol 8 (4) ◽  
pp. 45 ◽  
Author(s):  
Arsalan Amirfallah ◽  
Gizem Kocal ◽  
Olcun Unal ◽  
Hulya Ellidokuz ◽  
Ilhan Oztop ◽  
...  

Fluoropyrimidine-based chemotherapy is extensively used for the treatment of solid cancers, including colorectal cancer. However, fluoropyrimidine-driven toxicities are a major problem in the management of the disease. The grade and type of the toxicities depend on demographic factors, but substantial inter-individual variation in fluoropyrimidine-related toxicity is partly explained by genetic factors. The aim of this study was to investigate the effect of dihydropyrimidine dehydrogenase (DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) polymorphisms in colorectal cancer patients. Eighty-five patients who were administered fluoropyrimidine-based treatment were included in the study. The DPYD, TYMS and MTHFR polymorphisms were scanned by a next generation Sequenom MassARRAY. Fluoropyrimidine toxicities were observed in 92% of all patients. The following polymorphisms were detected: DPYD 85T>C (29.4% heterozygote mutants, 7.1% homozygote mutants), DPYD IVS 14+1G>A (1.2% heterozygote mutants), TYMS 1494del TTAAAG (38.4% heterozygote mutants, 24.7% homozygote mutants), MTHFR 677C>T (43.5% heterozygote mutants, 9.4% homozygote mutants) and MTHFR 1298A>C (8.2% heterozygote mutants, 2.4% homozygote mutants). A statistically significant association was demonstrated between MTHFR 677C>T and fluoropyrimidine-related toxicity. Furthermore, MTHFR 1298A>C was associated with hematopoietic toxicity. MTHFR polymorphisms may be considered as related factors of fluoropyrimidine toxicity and may be useful as predictive biomarkers for the determination of the colorectal cancer patients who can receive the greatest benefit from fluoropyrimidine-based treatments.


2012 ◽  
Vol 27 (4) ◽  
pp. 487-495 ◽  
Author(s):  
Elisabeth Odin ◽  
Yvonne Wettergren ◽  
Göran Carlsson ◽  
Bengt Gustavsson

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