Abstract P2-09-18: Exploration of the diagnostic utility of next generation sequencing with TruSight cancer panel for BRCA negative hereditary breast and ovarian cancer patients

Author(s):  
D Dacheva ◽  
R Dodova ◽  
A Mitkova ◽  
K Kamenarova ◽  
R Tzveova ◽  
...  
2015 ◽  
Vol 4 (11) ◽  
pp. e1030561 ◽  
Author(s):  
Miran Jang ◽  
Poh-Yin Yew ◽  
Kosei Hasegawa ◽  
Yuji Ikeda ◽  
Keiichi Fujiwara ◽  
...  

2014 ◽  
Vol 56 (2) ◽  
pp. 193-198 ◽  
Author(s):  
Magdalena Ratajska ◽  
Magdalena Krygier ◽  
Maciej Stukan ◽  
Alina Kuźniacka ◽  
Magdalena Koczkowska ◽  
...  

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1515-1515 ◽  
Author(s):  
Kenneth Offit ◽  
Kasmintan A Schrader ◽  
Kara Noelle Maxwell ◽  
Joseph Vijai ◽  
Steven Hart ◽  
...  

2015 ◽  
Author(s):  
Hyunseok P. Kang ◽  
Jared R Maguire ◽  
Clement S Chu ◽  
Imran S. Haque ◽  
Henry Lai ◽  
...  

Hereditary breast and ovarian cancer syndrome, caused by a germline deleterious variant in the BRCA1 or BRCA2 genes, is characterized by an increased risk for breast, ovarian, pancreatic and other cancers. Identification of those who have a BRCA1/2 mutation is important so that they can take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. We describe the design and analytic validation of the Counsyl Inherited Cancer Screen, a next-generation-sequencing-based test to detect pathogenic variation in the BRCA1 and BRCA2 genes. We demonstrate that the test is capable of detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy-number variants (CNVs, also known as large rearrangements) with zero errors over a 96-sample validation set consisting of samples from cell lines and deidentified patient samples, including the well-characterized NA12878 sample from HapMap/1000 Genomes.


2013 ◽  
Vol 24 ◽  
pp. iii13
Author(s):  
M.M. Menzel ◽  
T. Scheurenbrand ◽  
A. Sprecher ◽  
M. Schubach ◽  
F. Battke ◽  
...  

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1533-1533
Author(s):  
Jan Hauke ◽  
Andre Heimbach ◽  
Lisa Katharina Richters ◽  
Sandra Kroeber ◽  
Janine Altmüller ◽  
...  

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