Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51222
Abstract: We appreciate Li and colleagues’ interest in our work which did not identify associated NOTCH2NLC CGG expansion after screening a large pathologically confirmed cohort of European neuronal intranuclear inclusion disease (NIID) and additional cases with… read more here.
Keywords: genetic heterogeneity; heterogeneity; inclusion disease; intranuclear inclusion ... See more keywords
Prognostic impact of intra-field heterogeneity in oral squamous cell carcinoma
Sign Up to like & getrecommendations! Published in 2019 at "Virchows Archiv"
DOI: 10.1007/s00428-019-02656-z
Abstract: Genetic heterogeneity displayed by tumour cells (intratumoural heterogeneity, ITH) represents a diagnostic challenge when assessing tumour mutational profile. In oral squamous cell carcinoma (OSCC), ITH may be found both in tumour cells and in adjacent… read more here.
Keywords: genetic heterogeneity; heterogeneity; oral squamous; squamous cell ... See more keywords
The Repertoire of Serous Ovarian Cancer Non-genetic Heterogeneity Revealed by Single-Cell Sequencing of Normal Fallopian Tube Epithelial Cells.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer cell"
DOI: 10.1016/j.ccell.2020.01.003
Abstract: The inter-differentiation between cell states promotes cancer cell survival under stress and fosters non-genetic heterogeneity (NGH). NGH is, therefore, a surrogate of tumor resilience but its quantification is confounded by genetic heterogeneity. Here we show that… read more here.
Keywords: genetic heterogeneity; non genetic; ovarian cancer; cancer ... See more keywords
Genetic Heterogeneity of BRAF Fusion Kinases in Melanoma Affects Drug Responses.
Sign Up to like & getrecommendations! Published in 2019 at "Cell reports"
DOI: 10.1016/j.celrep.2019.09.009
Abstract: BRAF fusions are detected in numerous neoplasms, but their clinical management remains unresolved. We identified six melanoma lines harboring BRAF fusions representative of the clinical cases reported in the literature. Their unexpected heterogeneous responses to… read more here.
Keywords: genetic heterogeneity; braf fusions; braf; fusion kinases ... See more keywords
Genetic heterogeneity in infantile spasms
Sign Up to like & getrecommendations! Published in 2019 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2019.106181
Abstract: Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes… read more here.
Keywords: heterogeneity infantile; genetic heterogeneity; infantile spasms;
Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis
Sign Up to like & getrecommendations! Published in 2017 at "Leukemia Research Reports"
DOI: 10.1016/j.lrr.2017.09.001
Abstract: While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic… read more here.
Keywords: myeloid neoplasms; genetic heterogeneity; analysis; mutational analysis ... See more keywords
Targeted molecular profiling reveals genetic heterogeneity of poromas and porocarcinomas.
Sign Up to like & getrecommendations! Published in 2018 at "Pathology"
DOI: 10.1016/j.pathol.2017.10.011
Abstract: The genetic landscape of rare benign tumours and their malignant counterparts is still largely unexplored. While recent work showed that mutant HRAS is present in subsets of poromas and porocarcinomas, a more comprehensive genetic view… read more here.
Keywords: poromas porocarcinomas; mutations found; genetic heterogeneity;
Genetic insights into the morass of metastatic heterogeneity
Sign Up to like & getrecommendations! Published in 2018 at "Nature Reviews Cancer"
DOI: 10.1038/nrc.2017.126
Abstract: Tumour heterogeneity poses a substantial problem for the clinical management of cancer. Somatic evolution of the cancer genome results in genetically distinct subclones in the primary tumour with different biological properties and therapeutic sensitivities. The… read more here.
Keywords: genetic heterogeneity; heterogeneity; genetic insights; morass metastatic ... See more keywords
Genetic heterogeneity of primary lesion and metastasis in small intestine neuroendocrine tumors
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-22115-0
Abstract: Data on intratumoral heterogeneity of small intestine neuroendocrine tumors (SI-NETs) and related liver metastasis are limited. The aim of this study was to characterize genetic heterogeneity of 5 patients with SI-NETs. Therefore, formalin-fixed, paraffin-embedded tissue… read more here.
Keywords: genetic heterogeneity; heterogeneity; intestine neuroendocrine; neuroendocrine tumors ... See more keywords
Single-cell RNA-seq variant analysis for exploration of genetic heterogeneity in cancer
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-45934-1
Abstract: Inter- and intra-tumour heterogeneity is caused by genetic and non-genetic factors, leading to severe clinical implications. High-throughput sequencing technologies provide unprecedented tools to analyse DNA and RNA in single cells and explore both genetic heterogeneity… read more here.
Keywords: seq; genetic heterogeneity; heterogeneity; analysis ... See more keywords
Global genetic heterogeneity in adaptive traits.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular biology and evolution"
DOI: 10.1093/molbev/msab208
Abstract: Understanding the genetic architecture of complex traits is a major objective in biology. The standard approach for doing so is genome-wide association studies (GWAS), which aim to identify genetic polymorphisms responsible for variation in traits… read more here.
Keywords: heterogeneity adaptive; genetic heterogeneity; global genetic; biology ... See more keywords