scholarly journals Rare genetic variant analysis on blood pressure in related samples

2014 ◽  
Vol 8 (S1) ◽  
Author(s):  
Han Chen ◽  
Seung Hoan Choi ◽  
Jaeyoung Hong ◽  
Chen Lu ◽  
Jacqueline N Milton ◽  
...  
2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Carmine Vecchione ◽  
Francesco Villa ◽  
Albino Carrizzo ◽  
Chiara Carmela Spinelli ◽  
Antonio Damato ◽  
...  

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Carmine Vecchione ◽  
Francesco Villa ◽  
Albino Carrizzo ◽  
Chiara Carmela Spinelli ◽  
Antonio Damato ◽  
...  

1992 ◽  
Vol 88 (3) ◽  
Author(s):  
M. Weill ◽  
X.M. Zhang ◽  
F. Bernard ◽  
G. Lefranc ◽  
M.-P. Lefranc

2019 ◽  
Vol 6 (12) ◽  
pp. 327-332
Author(s):  
Cem Mirili ◽  
Çiğdem Kahraman ◽  
Ali Yılmaz ◽  
Mehmet Bilici ◽  
Salim Başol Tekin ◽  
...  

Objective:  In Lung cancer (LC), which is one of the most deadly cancers, longer survival has been achieved with targeted agents. For this reason, it is important to find the patients who are suitable for targeted therapies. Next-generation sequencing (NGS) is a method that allows multiple genetic variants to be detected simultaneously by performing massive parallel DNA sequencing at the same time. We wanted to reveal the clinical effects and benefits of genetic variant analysis with NGS for our patients. Material and Methods: Patients with stage 4 non-squamous and not otherwise specified (NOS) Non-small cell LC who underwent genetic variant analysis with NGS were included in the study, retrospectively. Results: Total of the 51 patients, 41 (80.4%) were male and the median age was 64 (35-85) years. According to TNM, 21 (41.2%) patients were stage 4A, 30 (58.8%) patients were stage 4B and 39 (76.5%) patients had adenocarcinoma and 12 (23.5%) had NOS histology. NGS analyzes were performed in median 14 days (8-43) and determined 24 pathogenic variants in 17 (%25) patients: 9EGFR (%17,6), 6PIKC3A (%11,7), 5KRAS (%9,8), 2PTEN (%3,9), 1BRAF (%1,9), 1MET (%1,6) (7 of them concomitantly). Cytotoxic chemotherapy was recommended in 41, anti-EGFR agents in 8 (afatinib in 4, erlotinib in 4 patients) patients and anti-BRAF+MEK inhibitor agent (dabrafenib+trametinib) in 1 patient. Conclusion: With the NGS, in just two weeks, both target and resistance genetic variants of our patients were detected at the same time and individualized treatments were applied. In this way, both time and cost were saved.


2013 ◽  
Vol 189 (4S) ◽  
Author(s):  
Brian T. Helfand ◽  
Stacy Loeb ◽  
Kimberly A. Roehl ◽  
Daniel Reinhardt ◽  
Phillip R. Cooper ◽  
...  

2006 ◽  
Vol 14 (7S_Part_31) ◽  
pp. P1648-P1649
Author(s):  
Sven J. Van der Lee ◽  
Iris E. Jansen ◽  
Olga Pletnikova ◽  
Cornelis Blauwendraat ◽  
Marc Hulsman ◽  
...  

2015 ◽  
Vol 33 ◽  
pp. e37
Author(s):  
Mifetika Lukitasari ◽  
Mohammad Saifur Rohman ◽  
Arina Madjidi ◽  
ValerinnaYogibuana Swastika Putri ◽  
Supono ◽  
...  

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