Identification of gene mutations in ovarian clear cell carcinoma by next generation sequencing

2016 ◽  
Author(s):  
Naotake Tanaka
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Gene Mutations ◽  
Next Generation ◽  
Ovarian Clear Cell Carcinoma ◽  
Generation Sequencing

scholarly journals Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing

2017 ◽  
Vol 57 (2) ◽  
pp. 51-60 ◽  
Author(s):  
Yusuke Shibuya ◽  
Hideki Tokunaga ◽  
Sakae Saito ◽  
Kazurou Shimokawa ◽  
Fumiki Katsuoka ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Genetic Alterations ◽  
Next Generation ◽  
Ovarian Clear Cell Carcinoma ◽  
Generation Sequencing

Prognostic and predictive biomarkers for clear cell renal cell carcinoma utilizing next generation sequencing.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e16070-e16070
Author(s):  
Jamal Zekri ◽  
Abdelrazak Meliti ◽  
Mohammed Abhas Baghdadi ◽  
Turki Sobahy ◽  
Saba Imtiaz
Keyword(s):  
Renal Cell Carcinoma ◽  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Predictive Biomarkers ◽  
High Potential ◽  
Next Generation ◽  
Cell Renal Cell Carcinoma ◽  
Generation Sequencing

e16070 Background: The management of the clear cell renal cell carcinoma (cc-RCC) has evolved over the past decade. Clinical patients’ and tumor characteristics have a limited role in predicting the outcome of these patients. The search for reliable prognostic and predictive biomarkers should be pursued in particular during the current era of next generation sequencing (NGS) technology. Methods: Formalin-Fixed Paraffin-Embedded (FFPE) tissue specimens of cc-RCC were sequenced using NGS and a customized gene panel testing for 72 tumor-related genes. High potential variants were defined by mutation effect (stop-loss, stop-gain, frame-shift substitutions or non-synonymous SNV) and class (pathogenic or likely pathogenic). Cases with identical variants were identified. Results: In total, all 47 cases had 69,052 variants, of which 20,453 were classified as high potential variants. Identical alterations in 15 genes were present in all samples. These genes are: MUC3A, MUC12, MUC7, SRRT, MUC2, MUC5AC, MUC5B, MUC22, MUC6, CR1, MUC4, MUC16, MUC19, MUC17 and MERTK. The numbers of identical and non-identical variants in these 15 genes were counted for each sample. Median number of variants was 377 and was selected as a cut off to define cases with high ( > 377) and low (≤377) variants number (HVN and LVN respectively). For the whole cohort, HVN was associated with shorter overall survival compared to LVN (Median 50 months vs. not reached; Log Rank P = 0.041). In the 11 patients who received anti-angiogenic tyrosine kinase inhibitors (TKIs), HVN was associated with a trend of shorter progression free survival (Median 5 vs. 10 months; Log Rank P = not significant). Conclusions: Alterations in SRRT, CR1, MERTK and MUCIN family genes are very common in RCC. HVN ( > 377) is associated with worse prognosis and may predict decreased benefit from anti-angiogenic TKIs.

scholarly journals Gene mutations of esophageal squamous cell carcinoma based on next-generation sequencing

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Long Wang ◽  
Yi-Meng Jia ◽  
Jing Zuo ◽  
Yu-Dong Wang ◽  
Zhi-Song Fan ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Next Generation Sequencing ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Gene Mutations ◽  
Next Generation ◽  
Generation Sequencing

Frequent Mutations in p53, CDKN2A, PTEN Genes in Lung Squamous Cell Carcinoma: A Next Generation Sequencing Study

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S141-S142
Author(s):  
H Xu ◽  
E Wei
Keyword(s):  
Squamous Cell Carcinoma ◽  
Next Generation Sequencing ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Targeted Therapies ◽  
Gene Mutations ◽  
Lung Squamous Cell Carcinoma ◽  
Next Generation ◽  
Frequent Mutations ◽  
Generation Sequencing

Abstract Introduction/Objective Targeted therapies have been successfully used for the treatment of lung adenocarcinoma but have not been implemented in the treatment of lung squamous cell carcinoma (SqCC). In order to better understand the underlying biology of SqCC, we present comprehensive Next Generation Sequencing (NGS) data via Cancerplex from SqCC. We have observed frequent mutations in p53, CDKN2A, PTEN, CDKN2B, and TGFBR2 genes together with few new rare gene mutations. Methods Twenty-one patients with diagnosis of Lung SqCC have been selected for Cancerplex assay (Kew, Inc., Waltham, MA). Formalin-fixed tissues from these patients were used for the assay. Neoplastic tissues with tumor content higher than 20% were micro-dissected from the blocks and NGS was performed with at least 50 ng DNA content and with a limit of detection of 10% mutant alleles. The depth of coverage was 500, and the size of the targeted region was 2.8 Mb. Results were compared with published databases. Results We have observed p53 mutations in 100% cases. p53 gene mutations included single point mutations with various coding protein mutations as well as splice variants. Mutations in CDKN2A is found in 47.6% of cases; PTEN mutations in 33.3% of cases; CDKN2B mutations in 28.6% of cases, and TGFBR2 in 28.6% of cases, which has been reported as actionable variants and actionable copy number variants. Conclusion Previous literatures have provided evidence that SqCC arising in different anatomical sites share common genomic mutation patterns. Our data partially supports this finding. We demonstrated p53, CDKN2A and PTEN are among the most commonly mutated genes in lung SqCC, while a few other genes mutations does not fit in this pattern. Apparently more studies need to be done to provide a more clear genetic landscape of SqCC, which would facilitate the development of targeted therapies.

Hypoxia-inducible Factor-1α Suppression in Ovarian Clear-cell Carcinoma Cells by Silibinin Administration

2020 ◽  
Vol 40 (12) ◽  
pp. 6791-6798
Author(s):  
MARIKO MIYAZAWA ◽  
MASANORI YASUDA ◽  
MASAKI MIYAZAWA ◽  
NAOKI OGANE ◽  
TOMOMI KATOH ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Hypoxia Inducible Factor ◽  
Carcinoma Cells ◽  
Ovarian Clear Cell Carcinoma ◽  
Hypoxia Inducible Factor 1Α
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