scholarly journals Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations

2017 ◽  
Vol 14 (6) ◽  
Keyword(s):  
Gallbladder Carcinoma ◽  
Gene Sequencing ◽  
Germline Mutations ◽  
High Impact ◽  
Targeted Gene Sequencing

Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway

2014 ◽  
Vol 46 (8) ◽  
pp. 872-876 ◽  
Author(s):  
Maolan Li ◽  
Zhou Zhang ◽  
Xiaoguang Li ◽  
Junyi Ye ◽  
Xiangsong Wu ◽  
...  
Keyword(s):  
Gallbladder Carcinoma ◽  
Gene Sequencing ◽  
Whole Exome ◽  
Recurrent Mutations ◽  
Targeted Gene Sequencing

scholarly journals Targeted-gene sequencing of an undifferentiated gallbladder carcinoma: a case report

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Ying Xiao ◽  
Canhong Xiang ◽  
Di Yang ◽  
Benqi Zhao ◽  
Yong Li ◽  
...  
Keyword(s):  
Case Report ◽  
Gallbladder Carcinoma ◽  
Gene Sequencing ◽  
Targeted Gene Sequencing

scholarly journals Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Loss Of Function ◽  
Retrospective Case ◽  
Complex Disorders ◽  
Glycogen Storage Diseases ◽  
Targeted Gene Sequencing ◽  
Retrospective Case Study

AbstractGlycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.

scholarly journals Author Correction: Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Iranian Population ◽  
Targeted Gene Sequencing

scholarly journals Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
John Hoon Rim ◽  
Se Hee Kim ◽  
In Sik Hwang ◽  
Soon Sung Kwon ◽  
Jieun Kim ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Early Onset ◽  
Gene Sequencing ◽  
Efficient Strategy ◽  
Targeted Gene Sequencing

scholarly journals Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

2017 ◽  
Vol 20 (4) ◽  
pp. 435-443 ◽  
Author(s):  
Anath C Lionel ◽  
Gregory Costain ◽  
Nasim Monfared ◽  
Susan Walker ◽  
Miriam S Reuter ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genetic Test ◽  
Diagnostic Yield ◽  
Gene Sequencing ◽  
Whole Genome ◽  
Targeted Gene Sequencing

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia

2019 ◽  
Vol 96 (6) ◽  
pp. 566-574
Author(s):  
Sunil Shakya ◽  
Renu Kumari ◽  
Varun Suroliya ◽  
Nishu Tyagi ◽  
Aditi Joshi ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Gene Sequencing ◽  
Whole Exome ◽  
Targeted Gene Sequencing

Targeted Gene Sequencing Panels: Applicability for Neoantigen Profiling of Colon and Rectal Adenocarcinoma

2019 ◽  
Vol 13 (2) ◽  
pp. 146-153
Author(s):  
A. V. Kanygina ◽  
E. I. Sharova ◽  
R. I. Sultanov ◽  
Y. A. Shelygin ◽  
Y. V. Doludin ◽  
...  
Keyword(s):  
Rectal Adenocarcinoma ◽  
Gene Sequencing ◽  
Targeted Gene Sequencing

Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development

2020 ◽  
Vol 103 ◽  
pp. 27-34
Author(s):  
Sangbo Lee ◽  
Se Hee Kim ◽  
Borahm Kim ◽  
Seung-Tae Lee ◽  
Jong Rak Choi ◽  
...  
Keyword(s):  
Cortical Development ◽  
Gene Sequencing ◽  
Clinical Implementation ◽  
Malformation Of Cortical Development ◽  
Targeted Gene Sequencing

scholarly journals Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy

Cancers ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 1753 ◽  
Author(s):  
Serena Di Cosimo ◽  
Valentina Appierto ◽  
Marco Silvestri ◽  
Giancarlo Pruneri ◽  
Andrea Vingiani ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Primary Tumor ◽  
Triple Negative ◽  
Kinase Inhibitor ◽  
Residual Disease ◽  
Gene Sequencing ◽  
Tumor Biopsy ◽  
Recurrent Mutations ◽  
Targeted Gene Sequencing

Triple negative breast cancer (TNBC) patients not attaining pathological Complete Response (pCR) after neo-adjuvant chemotherapy (NAC) have poor prognosis. We characterized 19 patients for somatic mutations in primary tumor biopsy and residual disease (RD) at surgery by 409 cancer-related gene sequencing (IonAmpliSeqTM Comprehensive Cancer Panel). A median of four (range 1–66) genes was mutated in each primary tumor biopsy, and the most common mutated gene was TP53 followed by a long tail of low frequency mutations. There were no recurrent mutations significantly associated with pCR. However, half of patients with RD had primary tumor biopsy with mutations in genes related to the immune system compared with none of those achieving pCR. Overall, the number of mutations showed a downward trend in post- as compared to pre-NAC samples. PIK3CA was the most common altered gene after NAC. The mutational profile of TNBC during treatment as inferred from patterns of mutant allele frequencies in matched pre-and post-NAC samples showed that RD harbored alterations of cell cycle progression, PI3K/Akt/mTOR, and EGFR tyrosine kinase inhibitor-resistance pathways. Our findings support the use of targeted-gene sequencing for TNBC therapeutic development, as patients without pCR may present mutations of immune-related pathways in their primary tumor biopsy, or actionable targets in the RD.

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