Prevalence of pathogenic variants in actionable genes in advanced ovarian cancer: a next-generation sequencing analysis of a nationwide registry study

2020 ◽  
Vol 141 ◽  
pp. 185-192
Author(s):  
Sokbom Kang ◽  
Ye L. Yu ◽  
Soo Y. Cho ◽  
Seog-Yun Park
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Advanced Ovarian Cancer ◽  
Sequencing Analysis ◽  
Registry Study ◽  
Next Generation ◽  
Pathogenic Variants ◽  
Nationwide Registry ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

scholarly journals Detection of somatic BRCA 1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases

2016 ◽  
Vol 5 (7) ◽  
pp. 1640-1646 ◽  
Author(s):  
Magdalena Koczkowska ◽  
Monika Zuk ◽  
Adam Gorczynski ◽  
Magdalena Ratajska ◽  
Marzena Lewandowska ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Brca 1 ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Next-generation sequencing reveals mutations in RB1, CDK4 and TP53 that may promote chemo-resistance to palbociclib in ovarian cancer

2019 ◽  
Vol 34 (2) ◽  
Author(s):  
Said El Shamieh ◽  
Fatima Saleh ◽  
Shafka Assaad ◽  
Fadi Farhat
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Cell Cycle Progression ◽  
Response To Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Tensin Homolog ◽  
Induce Cell Cycle Progression ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Abstract Because of the profound heterogeneity of ovarian cancer at the clinical, cellular and molecular levels, herein we discuss the molecular findings at the protein and genetic levels seen in our patient. Immunohistochemistry showed a complete loss of phosphatase and tensin homolog, this observation was the reason behind prescribing the CDK4/6 inhibitor palbociclib. However, there was no response to treatment. Next-generation sequencing analysis was performed showing a nonsense mutation, p.R552X in retinoblastoma 1 (RB1). This nonsense variation will possibly lead to a truncated protein lacking the domain responsible for interaction with E2F, an event that will induce cell cycle progression and, thus, be responsible for the chemo-resistance to palbociclib.

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 Diagnosis of Severe Tetanus Assisted by Next-Generation Sequencing Analysis of Etiology: A Case Report

2020 ◽  
Author(s):  
Yuling An ◽  
Mingming Fan ◽  
Ziyu Li ◽  
You Peng ◽  
Xiaomeng Yi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Comprehensive Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Next Generation Sequencing Analysis ◽  
Autonomic Instability ◽  
The Right ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Severe Tetanus

Abstract We shared our successful treatment experience of a severe tetanus patient in China. A 50 year old male patient was admitted to our hospital 10 days after the right arm injury due to pain and masticatory weakness. The pathogen of wound secretion was confirmed to be clostridium tetanus by next-generation sequencing (NGS).The patient's condition rapidly progressed to a severe state with autonomic instability. After debridement and comprehensive treatment in ICU, including deep analgesia and sedation with dexmedetomidine, ventilator support and anti-infection treatment, the patient finally recovered and discharged. This case suggested that early diagnosis and reasonable intervention of severe tetanus could reduce mortality.

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