scholarly journals Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

2014 ◽  
Vol 22 (11) ◽  
pp. 1305-1313 ◽  
Author(s):  
Laurent Castéra ◽  
Sophie Krieger ◽  
Antoine Rousselin ◽  
Angélina Legros ◽  
Jean-Jacques Baumann ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Candidate Genes ◽  
Next Generation ◽  
Breast And Ovarian Cancer ◽  
Generation Sequencing

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1515-1515 ◽  
Author(s):  
Kenneth Offit ◽  
Kasmintan A Schrader ◽  
Kara Noelle Maxwell ◽  
Joseph Vijai ◽  
Steven Hart ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Cancer Susceptibility ◽  
Next Generation ◽  
Breast And Ovarian Cancer ◽  
Generation Sequencing

scholarly journals Design and validation of a next generation sequencing assay for hereditary breast and ovarian cancer

2015 ◽  
Author(s):  
Hyunseok P. Kang ◽  
Jared R Maguire ◽  
Clement S Chu ◽  
Imran S. Haque ◽  
Henry Lai ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Cancer Screen ◽  
Inherited Cancer ◽  
Increased Risk ◽  
Generation Sequencing

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.

scholarly journals Diagnostic Next-Generation Sequencing Panel for Hereditary Breast and Ovarian Cancer

2013 ◽  
Vol 24 ◽  
pp. iii13
Author(s):  
M.M. Menzel ◽  
T. Scheurenbrand ◽  
A. Sprecher ◽  
M. Schubach ◽  
F. Battke ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Breast And Ovarian Cancer ◽  
Generation Sequencing

Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1533-1533
Author(s):  
Jan Hauke ◽  
Andre Heimbach ◽  
Lisa Katharina Richters ◽  
Sandra Kroeber ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Breast And Ovarian Cancer ◽  
Generation Sequencing

Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing

2019 ◽  
Vol 84 (4-5) ◽  
pp. 160-169
Author(s):  
Heming Wu ◽  
Qiuming Wang ◽  
Xuemin Guo ◽  
Qinghua Liu ◽  
Qunji Zhang ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Breast And Ovarian Cancer ◽  
Generation Sequencing
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