A national study of breast and colorectal cancer patients’ decision-making for novel personalized medicine genomic diagnostics

2013 ◽  
Vol 10 (3) ◽  
pp. 245-256 ◽  
Author(s):  
Amalia M Issa ◽  
Waqas Tufail ◽  
Nelson Atehortua ◽  
John McKeever
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.


2018 ◽  
Vol 29 ◽  
pp. v70
Author(s):  
J. Marín ◽  
G. Soler ◽  
M. Martínez-Villacampa ◽  
S. Vázquez ◽  
C. Santos Vivas ◽  
...  

2009 ◽  
Vol 12 (1) ◽  
pp. 27-37 ◽  
Author(s):  
Kinta Beaver ◽  
Malcolm Campbell ◽  
Olive Craven ◽  
David Jones ◽  
Karen A. Luker ◽  
...  

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

2016 ◽  
Vol 101 (7-8) ◽  
pp. 318-327 ◽  
Author(s):  
Ali E. Atici ◽  
Tebessum Cakir ◽  
Enver Reyhan ◽  
Mustafa Duman ◽  
Ilter Ozer ◽  
...  

The advantages of primary positron emission tomography–computed tomography (PET-CT) evaluation of both cancers needs to be clarified. This study aimed to investigate the efficacy of PET-CT compared with computed tomography (CT) in preoperative evaluation of colorectal and gastric cancer patients, and to determine its effects on treatment decision-making. We prospectively evaluated patients who presented with both types of cancer in our clinic between September 2008 and June 2010, using PET-CT and CT. We compared the results with histopathologic findings and determined the changing treatment strategies. In detecting local lymph node positivity, for colorectal cancer patients the sensitivity of PET-CT was 30% and that of CT was 20%; the specificities were the same (100%). For gastric cancer patients, the sensitivity of PET-CT was 38.9% and that of CT was 22%; the specificities were 100% and 83%, respectively. In detecting metastasis, for colorectal cancer patients the sensitivity of PET-CT was 80% and that of CT was 50%; the specificities were similar (100% versus 95%). For gastric cancer patients, the sensitivity of PET-CT was 72% and that of CT was 34%; the specificities were similar (95% versus 90%). In detecting liver metastasis, for colorectal cancer patients the sensitivity of PET was 75% and that of CT was 50%; the specificities were similar (100% versus 95%). For gastric cancer patients, the sensitivity of PET-CT was 57% and that of CT was 28%; the specificities were similar (95% versus 91%). PET-CT findings altered treatment decisions in 16% of patients (n = 10; 9 gastric cancer and 1 colorectal cancer). A high rate of treatment strategy alteration in gastric cancers was seen with PET-CT; its usage is preferred in colorectal cancer staging only for high-risk patients and those with equivocal findings.


2019 ◽  
Vol 30 ◽  
pp. v240-v241
Author(s):  
F. Papaccio ◽  
M.F. Gutierrez-Bravo ◽  
M. Cabeza-Segura ◽  
V. Gambardella ◽  
M. Huerta ◽  
...  

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