scholarly journals The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program

2016 ◽  
Vol 26 (1) ◽  
pp. 105-112 ◽  
Author(s):  
A. E. Bunnell ◽  
C. A. Garby ◽  
E. J. Pearson ◽  
S. A. Walker ◽  
L. E. Panos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
Clinical Utility ◽  
Next Generation ◽  
Community Based ◽  
Generation Sequencing

scholarly journals Frequency of variants of hereditary cancer risk syndrome in 1682 Brazilian patients genotyped by next-generation sequencing

2021 ◽  
Author(s):  
Jarbas Maciel de Oliveira ◽  
Nuria Bengala Zurro ◽  
Antonio Victor Campos Coelho ◽  
Marcel Pinheiro Caraciolo ◽  
Rodrigo Bertollo de Alexandre ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
False Negative ◽  
Health Agency ◽  
Substantial Part ◽  
Next Generation ◽  
Germline Variants ◽  
Generation Sequencing

Hereditary cancer risk syndromes are a group of disorders caused by germline variants in a growing number of genes. Most studies on hereditary cancer have been conducted in white populations. Here we report the largest study in Brazilian individuals with multiple, self-reported, ethnicities. We genotyped 1682 individuals from all regions of the country who were referred to genetic testing for hereditary cancer risk with multigene Next-generation sequencing (NGS) panels. Most were women, and had a personal and/or family history of cancer. The majority of cancer cases were breast and ovarian. We identified a total of 321 pathogenic/likely pathogenic (P/LP) variants in 305 people (18.1%), corresponding to 166 unique variants. These variants were distributed among 32 genes, and most were detected on BRCA1 and BRCA2 (129 patients, 26.2% and 14.3% of all P/LP hits, respectively). The prevalence of any genes transheterozygosity in our sample was 0.89% (15/1682). The BRCA1/BRCA2 double heterozygosity rate was 0.78% (1/129) for BRCA variants carriers and 0.06% (1/1682) overall. We classified patients according to the NCCN and Brazilian National Health Agency (ANS) genetic testing recommendation criteria. We found that the criteria had false negative rates of 17.3% and 44.2%, meaning that both failed to detect a substantial part of P/LP positive patients. Therefore, our results show that NGS adds to knowledge on the Brazilian spectrum of germline variants associated with cancer risk and indicate that Brazilian testing guidelines should be improved.

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience

2020 ◽  
Vol 61 (11) ◽  
pp. 2568-2583 ◽  
Author(s):  
Vincent Pillonel ◽  
Darius Juskevicius ◽  
Michel Bihl ◽  
Frank Stenner ◽  
Jörg P. Halter ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Utility ◽  
Practical Experience ◽  
Next Generation ◽  
Lymphoid Malignancies ◽  
Generation Sequencing

scholarly journals The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos

2015 ◽  
Vol 31 (1) ◽  
pp. 62-70 ◽  
Author(s):  
Junmei Fan ◽  
Li Wang ◽  
Hui Wang ◽  
Minyue Ma ◽  
Shufang Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Utility ◽  
Human Embryos ◽  
Next Generation ◽  
Generation Sequencing

Mutation yield of a 34-gene next-generation sequencing test in community-based tumor samples.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. e22132-e22132
Author(s):  
Kevin Z. Qu ◽  
Heather Sanders ◽  
Joseph Catanese ◽  
Andrew Grupe ◽  
Hai-Rong Li ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Community Based ◽  
Generation Sequencing

Clinical utility of profiling somatic alterations in Indian cancer patients using a multi-gene next generation sequencing (NGS) test.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. e22127-e22127
Author(s):  
Urvashi Bahadur ◽  
Aarthi Ravichandran ◽  
Shataparna Banerjee ◽  
Shreya Paliwal ◽  
Roopa Rayanur Sripathi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cancer Patients ◽  
Clinical Utility ◽  
Next Generation ◽  
Somatic Alterations ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing
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