scholarly journals Long-Range PCR and Next-Generation Sequencing of BRCA1 and BRCA2 in Breast Cancer

2012 ◽  
Vol 14 (5) ◽  
pp. 467-475 ◽  
Author(s):  
Hilmi Ozcelik ◽  
Xuejiang Shi ◽  
Martin C. Chang ◽  
Eric Tram ◽  
Matt Vlasschaert ◽  
...  
2012 ◽  
Vol 14 (3) ◽  
pp. 286-293 ◽  
Author(s):  
Imma Hernan ◽  
Emma Borràs ◽  
Miguel de Sousa Dias ◽  
María José Gamundi ◽  
Begoña Mañé ◽  
...  

PLoS ONE ◽  
2011 ◽  
Vol 6 (11) ◽  
pp. e28240 ◽  
Author(s):  
Ellen Knierim ◽  
Barbara Lucke ◽  
Jana Marie Schwarz ◽  
Markus Schuelke ◽  
Dominik Seelow

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Omar Alejandro Zayas-Villanueva ◽  
Luis Daniel Campos-Acevedo ◽  
José de Jesús Lugo-Trampe ◽  
David Hernández-Barajas ◽  
Juan Francisco González-Guerrero ◽  
...  

Author(s):  
I.F. Stetsenko ◽  
A.Yu. Krasnenko ◽  
U.S. Stanoevich ◽  
A.A. Mescheryakov ◽  
I.K. Vorotnikov ◽  
...  

Breast cancer is one of the most widespread forms of solid tumors. By analyzing the traits of breast cancer pathogenesis at the molecular level using modern genetic analysis techniques and at different stages of the disease new data can be obtained to be further utilized in clinical practice. Molecular profiling based on next-generation sequencing is being increasingly applied as a clinical test to select target drugs for treating breast cancer patients with tumors highly resistant to therapy. In this study, we performed targeted sequencing of BRCA1 and BRCA2 oncogenes. In the total of 66 DNA samples from patients with breast tumors, BRCA1/2 mutations were found in 39 patients. There were 78 unique genetic variants, including 30 mutations in BRCA1 and 48 mutations in BRCA2. We identified 33 mutations affecting the sites of post-translational modification in proteins (PMT mutations).


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