Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26080
Abstract: Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical malformations such as focal cortical dysplasia, hemimegalencephaly, malformation of cortical development with oligodendroglial hyperplasia in epilepsy, and ganglioglioma. Here, we collected cerebrospinal… read more here.
Keywords: epilepsy; detection brain; somatic mutations; refractory ... See more keywords
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Neurology"
DOI: 10.1002/ana.26609
Abstract: Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the brain by deep sequencing and… read more here.
Keywords: level somatic; focal cortical; cortical dysplasia; low level ... See more keywords
Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5436
Abstract: We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). read more here.
Keywords: locoregional recurrent; head neck; metastatic head; mutations tumor ... See more keywords
Re: "Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease".
Sign Up to like & getrecommendations! Published in 2020 at "Hepatology"
DOI: 10.1002/hep.31169
Abstract: Studies of somatic mutations have historically focused on those occurring during carcinogenesis, but recent research suggests functional mutations can accumulate in the absence of cancer. Zhu and colleagues recently published an extensive analysis of exome… read more here.
Keywords: hepatic clonal; mutations increase; increase hepatic; somatic mutations ... See more keywords
Positive Correlation Between Somatic Mutations in RAS Gene and Colorectal Cancer in Telangana Population: Hospital-Based Study in a Cosmopolitan City
Sign Up to like & getrecommendations! Published in 2019 at "Applied Biochemistry and Biotechnology"
DOI: 10.1007/s12010-019-03119-6
Abstract: Colorectal cancer (CRC) ranks among the most prevalent cancer types in both men and women. Screening of RAS (Kirsten rat sarcoma viral oncogene homolog (KRAS), neuro-blastoma RAS viral oncogene homolog (NRAS), and v-raf murine sarcoma… read more here.
Keywords: colorectal cancer; study; ras gene; somatic mutations ... See more keywords
Challenges in next generation sequencing analysis of somatic mutations in transplant patients.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2018.04.119
Abstract: Analysis of somatic mutations in solid tumors and hematologic malignancies using targeted next generation sequencing (NGS)-based assays has become part of routine oncology practice as well as clinical trials. The use of paired tumor-normal DNA… read more here.
Keywords: next generation; generation sequencing; analysis somatic; somatic mutations ... See more keywords
Systematic Functional Annotation of Somatic Mutations in Cancer.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer cell"
DOI: 10.1016/j.ccell.2018.01.021
Abstract: The functional impact of the vast majority of cancer somatic mutations remains unknown, representing a critical knowledge gap for implementing precision oncology. Here, we report the development of a moderate-throughput functional genomic platform consisting of… read more here.
Keywords: functional annotation; annotation somatic; somatic mutations; mutations cancer ... See more keywords
3154 – RHESUS MACAQUES AS NATURAL MODELS FOR AGE-RELATED CLONAL HEMATOPOIESIS
Sign Up to like & getrecommendations! Published in 2020 at "Experimental Hematology"
DOI: 10.1016/j.exphem.2020.09.161
Abstract: Clonal hematopoiesis (CH) describes the clonal expansion of blood cells derived from hematopoietic stem/progenitor cell (HSPC) sharing the same somatic mutations. Recent large deep sequencing studies revealed that CH somatic mutations are prevalent in peripheral… read more here.
Keywords: 3154 rhesus; clonal hematopoiesis; age; somatic mutations ... See more keywords
Personalized prediction of genes with tumor-causing somatic mutations based on multi-modal deep Boltzmann machine
Sign Up to like & getrecommendations! Published in 2019 at "Neurocomputing"
DOI: 10.1016/j.neucom.2018.02.096
Abstract: Abstract When diagnosed at an advanced stage, most cancer patients suffer from treatment failure, recurrences and low survival. Taking advantage of high-throughput sequencing and deep learning techniques, we developed an early cancer monitoring method based… read more here.
Keywords: modal deep; somatic mutations; multi modal; based multi ... See more keywords
Comprehensive multiparameter genetic analysis improves circulating tumor DNA detection in head and neck cancer patients.
Sign Up to like & getrecommendations! Published in 2020 at "Oral oncology"
DOI: 10.1016/j.oraloncology.2020.104852
Abstract: INTRODUCTION Tumor-specific genetic aberrations in cell-free DNA (cfDNA) from plasma are promising biomarkers for diagnosis of recurrent head and neck squamous cell carcinoma (HNSCC). However, the sensitivity when using somatic mutations only in cfDNA is… read more here.
Keywords: detection; dna; analysis; somatic mutations ... See more keywords
Aging: Somatic Mutations, Epigenetic Drift and Gene Dosage Imbalance.
Sign Up to like & getrecommendations! Published in 2017 at "Trends in cell biology"
DOI: 10.1016/j.tcb.2016.11.006
Abstract: Aging involves a progressive decline of metabolic function and an increased incidence of late-onset degenerative disorders and cancer. To a large extent, these processes are influenced by alterations affecting the integrity of genome architecture and,… read more here.
Keywords: mutations epigenetic; gene dosage; somatic mutations; aging somatic ... See more keywords