scholarly journals First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

2016 ◽  
Vol 12 (2) ◽  
pp. 1192-1196 ◽  
Author(s):  
Farah Jouali ◽  
Fatima-Zahra Laarabi ◽  
Nabila Marchoudi ◽  
Ilham Ratbi ◽  
Siham Chafai Elalaoui ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Frameshift Mutation ◽  
Brca1 Gene ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants

2019 ◽  
Vol 20 (14) ◽  
pp. 3442 ◽  
Author(s):  
Paola Concolino ◽  
Gianfranco Gelli ◽  
Roberta Rizza ◽  
Alessandra Costella ◽  
Giovanni Scambia ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Brca2 Gene ◽  
Brca1 Gene ◽  
Prediction Algorithm ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants ◽  
Generation Sequencing

The aim of this report is to describe results of BRCA1 and BRCA2 Next Generation Sequencing Analysis (NGS) analysis in 132 selected Italian patients with breast/ovarian cancer. A NGS pipeline with a reliable Copy Number Variation (CNV) prediction algorithm was applied. In addition, VarSome and Priors V2.0 Software were employed for in silico analysis of novel missense variants. A total of 37 BRCA1 and BRCA2 pathogenic variants were found in 34 unrelated subjects with a frequency of positive patients of 25.7% (34/132). Twenty-four deleterious variants were detected in BRCA1 (representing the 64.9% of all identified pathogenic defects) and thirteen (35.1% of all identified pathogenic variants) in BRCA2 gene. The percentage of patients carrying a variant of unknown significance (VUS) was 7.5% (10/132). In addition, seven novel variants (five in BRCA2 and two in BRCA1 gene), never previously reported, were identified. Our approach represents a robust and easy-to-use method for full BRCA1/2 screening. However, a consistent number of our high-risk families still remained without a satisfying answer. Necessarily, further collective efforts must be directed to a definitive classification of VUSs. The future auspice is that the use of multi-gene panel and more advanced screenings, such as whole exome sequencing and/or RNA seq, in routine diagnostics increases the detection rate.

scholarly journals Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer

2019 ◽  
Vol 60 (10) ◽  
pp. 914 ◽  
Author(s):  
Yong Jae Lee ◽  
Dachan Kim ◽  
Hyun-Soo Kim ◽  
Kiyong Na ◽  
Jung-Yun Lee ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Clinical Practice ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Characterization of T cell repertoire of blood, tumor, and ascites in ovarian cancer patients using next generation sequencing

2015 ◽  
Vol 4 (11) ◽  
pp. e1030561 ◽  
Author(s):  
Miran Jang ◽  
Poh-Yin Yew ◽  
Kosei Hasegawa ◽  
Yuji Ikeda ◽  
Keiichi Fujiwara ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
T Cell ◽  
Cancer Patients ◽  
T Cell Repertoire ◽  
Next Generation ◽  
Cell Repertoire ◽  
Generation Sequencing

scholarly journals Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer

2020 ◽  
Vol 9 (1) ◽  
pp. 1
Author(s):  
Veronica Zelli ◽  
Chiara Compagnoni ◽  
Katia Cannita ◽  
Roberta Capelli ◽  
Carlo Capalbo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Brca1 And Brca2 ◽  
Familial Predisposition ◽  
Cancer Pathogenesis ◽  
Or Gene ◽  
Gene Panels ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Next generation sequencing (NGS) provides a powerful tool in the field of medical genetics, allowing one to perform multi-gene analysis and to sequence entire exomes (WES), transcriptomes or genomes (WGS). The generated high-throughput data are particularly suitable for enhancing the understanding of the genetic bases of complex, multi-gene diseases, such as cancer. Among the various types of tumors, those with a familial predisposition are of great interest for the isolation of novel genes or gene variants, detectable at the germline level and involved in cancer pathogenesis. The identification of novel genetic factors would have great translational value, helping clinicians in defining risk and prevention strategies. In this regard, it is known that the majority of breast/ovarian cases with familial predisposition, lacking variants in the highly penetrant BRCA1 and BRCA2 genes (non-BRCA), remains unexplained, although several less penetrant genes (e.g., ATM, PALB2) have been identified. In this scenario, NGS technologies offer a powerful tool for the discovery of novel factors involved in familial breast/ovarian cancer. In this review, we summarize and discuss the state of the art applications of NGS gene panels, WES and WGS in the context of familial breast/ovarian cancer.

scholarly journals Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy

Cancers ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 1641 ◽  
Author(s):  
Caterina Fumagalli ◽  
Federica Tomao ◽  
Ilaria Betella ◽  
Alessandra Rappa ◽  
Mariarosaria Calvello ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Epithelial Ovarian Cancer ◽  
Success Rate ◽  
Parp Inhibitor ◽  
Turnaround Time ◽  
Molecular Diagnostic ◽  
Next Generation ◽  
Clinical Implementation ◽  
Generation Sequencing

The PARP inhibitor olaparib has been approved in the maintenance setting of platinum-sensitive epithelial ovarian cancer patients with germline or somatic BRCA1/2 mutation. Therefore, the availability of a tumor BRCA test has become a clinical need. We report the results of the clinical implementation of a tumor BRCA test within the frame of an institutional workflow for the management of patients with nonmucinous and nonborderline epithelial ovarian cancer. In total, 223 patients with epithelial ovarian cancer were prospectively analyzed. BRCA1/2 status was evaluated on formalin-fixed, paraffin-embedded tumor specimens using next-generation sequencing technology. The tumor BRCA test had a success rate of 99.1% (221 of 223 successfully analyzed cases) and a median turnaround time of 17 calendar days. Among the 221 cases, BRCA1 or BRCA2 pathogenic/likely pathogenic mutations were found in 62 (28.1%) cases and variants of uncertain significance in 25 (11.3%) cases. The concordance rate between tumor BRCA test results and germline BRCA1/2 status was 87%, with five cases harboring pathogenic/likely pathogenic somatic-only mutations. The next-generation, sequencing-based tumor BRCA test showed a high success rate and a turnaround time compatible with clinical purposes. The tumor BRCA test could be implemented in a molecular diagnostic setting and it may guide the clinical management of patients with epithelial ovarian cancer.

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