Genomic cancers gene rearrangement. Medical search. Frequent questions

Different cancer types tend to depend on a limited number of 'driver' oncogene mutations. (cancerquest.org)
These mutations are the main changes that make the cancer progress. (cancerquest.org)
ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts. (news-medical.net)
Currently the Aldaz laboratory is engaged in comprehensive approaches to characterize the genome, transcriptome and methylome of DCIS lesions with the goal of identifying key driver mutations, epigenetic changes and gene expression alterations that occur at pre-invasive stages of breast cancer progression. (mdanderson.org)
But a new closer look at genomes in prostate cancer by an international team of researchers reveals that, in fact, genetic mutations occur in abrupt, periodic bursts, causing complex, large scale reshuffling of DNA driving the development of prostate cancer. (enewspf.com)
Co-senior author Dr. Francesca Demichelis, assistant professor at the Centre for Integrative Biology at the University of Trento who also serves as adjunct assistant professor of computational biomedicine at Weill Cornell, worked with her collaborators to understand how widespread the DNA mutations and alterations seen in the tumors were across the cancer samples, and what that might mean in terms of cancer progression and, potentially, treatment. (enewspf.com)
The researchers also report that future targeted cancer therapy may depend on identifying complex sets of genetic mutations and rearrangements in each patient. (enewspf.com)
Unrepaired or incorrectly repaired DNA damage may lead to loss of heterozygosity, mutations, deletions, genomic rearrangements and chromosome loss. (cea.fr)
There is a broad consensus that cancer is the result of somatic cells having serially gained, by a series of mutations, the ability to grow independently, to recruit resources from the circulation and the stroma, to invade local tissues, and to found anatomically distant metastases, ultimately killing the host. (nih.gov)
However, despite the progress in developing new targeted agents and increased knowledge of cancer genomics, the majority of cancers do not harbour mutations that can readily be linked to currently approved or investigational oncology drugs. (ddw-online.com)
Loss-of-function mutations in the BRCA1 and BRCA2 genes increase the risk of cancer. (crick.ac.uk)
Spontaneously arising and MMS-induced insertion/deletion mutations and large rearrangements were also more common in BRCA1/2 mutant cells compared with the wild-type control. (crick.ac.uk)
Cancer biology is complex, so an alternative would be to perform multiple gene assays that could establish the somatic mutational profile of a tumour, and subsequently check if any of the mutations could be addressed therapeutically with agents targeting those specifically defined mutations (for example, BRAF, EGFR, KRAS etc. (hospitalhealthcare.com)
Numerous NGS-based tests are being developed by both companies and academic labs and these can test for point mutations, short insertions and deletions, copy number alterations and also genomic rearrangements in a wide range of genes known to be somatically mutated in cancer, using paraffin-embedded tissues and in clinically relevant turnaround times in a scalable manner depending on the specific needs. (hospitalhealthcare.com)
Even so, the team's follow-up analyses - including RNA sequencing experiments - indicated that rearrangements stemming from extrachromosomal circular DNA from MYCN and other genes may be a recurrent and ongoing source of new mutations through a multi-hit model in neuroblastoma. (genomeweb.com)
Wells demonstrated that the breakpoints of genomic rearrangements coincide with non-B DNA conformations and that these genomic rearrangements are the basis of a number of gene mutations which cause diseases. (gf.org)
In the past decade, scientists pinpointed mutations not previously linked to cancer, identified subtype-specific mutations in the brain tumor medulloblastoma, defined novel cancer subtypes, highlighted the developmental context of cancer and revealed the role epigenetics plays in some pediatric cancers. (stjude.org)
Published in the New England Journal of Medicine in 2015, we found a surprisingly high percentage of pediatric cancer patients carry germline mutations in known cancer predisposition genes. (stjude.org)
The clinic helps children and families who may have inherited genetic mutations that leave them at higher-than-normal risk of cancer. (stjude.org)
These tools have reduced the data error rate, recognized mutations driving cancer and made it easier for researchers worldwide to interrogate data-either their own or data generated by the Pediatric Cancer Genome Project. (stjude.org)
Identification of individuals with mutations that make them more likely to develop certain cancers can allow them to take steps to prevent cancer or find it early if it develops, leading to improved health outcomes. (cdc.gov)
The virus has been named Phoenix and was constructed through comparison of DNA sequences from the human endogenous retrovirus K family (HERV-K). 2 HERV-K is proposed to be a fairly young (less than 5 million years) family, as it still contains a complete set of genes (albeit with mutations) necessary for a retrovirus to produce infectious viruses. (answersingenesis.org)
Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). (oncotarget.com)
A series of histopathologically confirmed formalin-fixed, paraffin-embedded SCLC specimens were analysed for epidermal growth factor receptors ( EGFR ) , KRAS, NRAS and BRAF mutations, ALK gene rearrangements and MET amplification. (biomedcentral.com)
No mutations in EGFR , KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified. (biomedcentral.com)
Intratumoral heterogeneity, with spatially separated heterogeneous somatic mutations and chromosomal imbalances in primary tumors or metastases, provides a tremendous challenge for cancer treatment, since examining a tissue biopsy of a portion of tumor mass could miss therapeutically relevant lesions [ 6 ]. (biomedcentral.com)
The GENIE platform will enable researchers to better understand clinical actionability across cancer types, assess the clinical utility of genomic sequencing, define clinical trial enrollment rates to genotype-specific clinical trials, validate genomic biomarkers, reposition, or repurpose of already approved drugs, expand existing drug labels by addition of new mutations, and identify new drug targets. (esmo.org)
These strategies include highly targeted, amplicon-based panels covering mutation hotspots from approximately 50 genes, designed to cover current clinically actionable mutations and clinical trials, as well as broader, custom panels (275-429 genes) utilizing hybrid-capture to isolate all exons and some introns to support discovery as well as clinical research projects. (esmo.org)
With the increasing knowledge of mutations involved in cancer, it is imperative to have a tertiary analysis pipeline that provides users with the most up to date information on somatic mutations. (goldenhelix.com)
In summary, the lung is the primary tissue observed for somatic mutations in MET (21.58%) and the specific MET gene amplification is seen in 2-4% of previously untreated NSCLC (6). (goldenhelix.com)
Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
BML mutations thus result in defects in DNA repair and genomic instability in the somatic cells, predisposing the patients to cancer development. (medscape.com)
The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
Over 60 mutations of the BLM gene have been found in Bloom syndrome. (medscape.com)
Correction to: ORCHID: A phase II study of Olaparib in Metastatic Renal Cell Carcinoma Patients HarborIng a BAP1 or Other DNA Repair Gene Mutations. (cdc.gov)
A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study. (cdc.gov)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

To improve our understanding of longstanding disparities in incidence and mortality in lung cancer across ancestry, we performed a systematic comparative analysis of molecular features in tumors from African Americans (AAs) and European Americans (EAs). (nature.com)
We find that lung squamous cell carcinoma tumors from AAs exhibit higher genomic instability-the proportion of non-diploid genome-aggressive molecular features such as chromothripsis and higher homologous recombination deficiency (HRD). (nature.com)
In The Cancer Genome Atlas, we demonstrate that high genomic instability, HRD and chromothripsis among tumors from AAs is found across many cancer types. (nature.com)
The prevalence of germline HRD (that is, the total number of pathogenic variants in homologous recombination genes) is higher in tumors from AAs, suggesting that the somatic differences observed have genetic ancestry origins. (nature.com)
Two students focused on establishing transgenic mouse models to explore the impact of androgen receptor, hepatocyte growth factor and human c-MET on the development of prostate cancer tumors. (ca.gov)
We applied NeoLoopFinder in Hi-C data from 50 cancer cell lines and primary tumors and identified tens of recurrent genes associated with enhancer hijacking. (nature.com)
Southern analysisdid not reveal gross DNA rearrangements within the bc10 genomic locus in theinvasive tumors, implying that the differential expression of the gene mostlikely reflects alterations in messenger expression (transcription and/or mRNAdecay). (embl-heidelberg.de)
The downregulation of this novel marker in invasive tumors suggests aputative role in bladder cancer progression. (embl-heidelberg.de)
We have tested it on matched RNA-Seq and WGS data for both tumors and cancer cell lines and show that it can be used to validate both new predicted gene fusions and experimentally validated fusion events. (biomedcentral.com)
The Childhood Solid Tumor Network and PROPEL support preclinical research into pediatric solid tumors and blood cancers such as leukemia. (stjude.org)
Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. (lu.se)
Cancer is a primary focus of the PMI, with the launch of the MATCH trial (Molecular Analysis for Therapy CHoice), a precision medicine cancer treatment clinical trial in which treatment is based in genetic changes found in patients' tumors. (cdc.gov)
Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
Gene fusions are often major cancer driving events, especially in pediatric cancers and liquid tumors. (mdanderson.org)
We used genome engineering to perform experimental modeling of AR gene rearrangements and long-read RNA sequencing to analyze effects on expression ofARandtruncatedARvariants (AR-V). Results: AR was among the most frequently rearranged genes in CRPC tumors. (wustl.edu)
Breast tumors can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. (lu.se)
An important development in cancer research over the past 2 decades has been the recognition that genetic changes drive the pathogenesis of tumors of both adulthood and childhood. (medscape.com)
Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)
Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. (lu.se)

However, repurposing the use of approved therapies in patients with potentially targetable genomic alterations continues to be an emerging area of interest. (jnccn.org)
2 , 3 Additionally, repurposing the use of approved targeted therapies in patients with specific genomic alterations or those with various genomic or metabolic abnormalities continues to be an emerging area of interest. (jnccn.org)
Co-lead investigator Dr. Levi Garraway, of the Broad Institute and Dana-Farber Cancer Institute, and his collaborators then tracked how genetic alterations accumulated during cancer development and progression. (enewspf.com)
Information about what alterations are common, and which aren't, will most likely help guide us in terms of cancer drug use and patient response," says Dr. Demichelis. (enewspf.com)
Such genetic alterations are the main causes of cancer and other genetic diseases. (cea.fr)
Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking. (nature.com)
We find some very striking similarities, including recurring genomic rearrangements, alterations of the regulation of specific growth-promoting genes, population-genetic features that affect the fitness trajectories of growth rate variants in evolving populations, and physiological and metabolic similarities derived from the conservation of the basic plan of growth and cell multiplication among all eukaryotes. (nih.gov)
Collectively, our data offer the landscape of hierarchical layers of cancer genome and functional alterations that contribute to the development of GBC. (bvsalud.org)
In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)

Our findings represent a new way to think about cancer genomics as well as treatment in prostate and, potentially, other cancers. (enewspf.com)
Data used for survival analysis in leukemia and gastric cancer were downloaded from the cBioPortal for Cancer Genomics ( https://www.cbioportal.org ) 45 . (nature.com)
Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)
Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. (genomeweb.com)
In 2018, St. Jude launched an online data-sharing and collaboration platform that provides researchers access to the world's largest public repository of pediatric cancer genomics data. (stjude.org)
We are also developing a state-of-the-art clinical genomics program to better diagnose and treat children with cancer. (stjude.org)
In 2016, we documented that the clinical and public health translational action in genomics was clearly ahead for cancer compared with other common diseases, as evidenced by the greater number of epidemiological and clinical studies, evidence-based guidelines and implementation programs. (cdc.gov)
Cancer genomics can inform both prevention and treatment and could serve as a model for other health conditions. (cdc.gov)
Background: Gene regulatory relationships can be inferred using matched array comparative genomics and transcriptomics data sets from cancer samples. (ebsco.com)
Several "big data" initiatives, including the Genomics, Evidence, Neoplasia, Information, Exchange (GENIE) project have been launched in recent years to address the challenges of large-scale sharing of genomic and clinical data and to accelerate progress in identifying both effective and ineffective therapies to treat cancer. (esmo.org)
Recognising the immediate and urgent need for broad data sharing across cancer centres and with the wider scientific community, the American Association for Cancer Research (AACR) in partnership with eight global academic leaders in clinical cancer genomics initiated the AACR Project GENIE. (esmo.org)
To enable broad-based sharing, the project has partnership agreements in place with Sage Bionetworks, and the cBioPortal for Cancer Genomics, both of which have significant prior experience in similar projects and have developed established and accepted data-sharing platforms within the community. (esmo.org)
As the integration of NGS in the study and treatment of cancer continues to mature, we believe that the field of cancer genomics will need to move toward more complete 100% genome sequencing. (frontiersin.org)
Non-coding regions represent an important frontier in cancer genomics. (frontiersin.org)
First, this article summarizes the history of massively parallel next-generation sequencing (NGS) in the context of cancer genomics and reviews recent research and clinical applications. (frontiersin.org)
Cancer genomics & proteomics 2023 8 20 (5): 469-475. (cdc.gov)
The information is freely available ( https://mitelmandatabase.isb-cgc.org) as an integrated component of the Cancer Genomics Cloud (CGC) - a flexible and powerful platform for cancer genomics research initiated and sponsored by the US National Cancer Institute (NCI). (lu.se)

In mammals, mutation of proteins involved in the nuclear architecture (lamins and lamin associated proteins) results in diseases associated with genomic instability. (cea.fr)
In cancer, gene fusions occur frequently due to the genetic instability of cancer cells. (biomedcentral.com)
Owing to the genomic instability present in this disease, patients with Bloom syndrome show a much higher incidence of malignant neoplasms, which is the major cause of death in such patients. (medscape.com)
The overall result of the genomic instability in the proliferating cells is a high risk of malignancy, reduced fertility or infertility, B- and T-cell immunodeficiencies, and cutaneous manifestations, including photosensitivity, poikiloderma, and telangiectatic erythema. (medscape.com)

Although the investigators had previously identified an abnormal chromosome rearrangement in Ph-like ALL, little was known about the biological effects of that rearrangement. (news-medical.net)
Imatinib has a 95% response rate in patients with chronic myeloid leukemia (caused by a chromosomal rearrangement called the Philadelphia chromosome) and extends quality-adjusted life . (cdc.gov)
For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 7 likely contains 900 to 1,000 genes that provide instructions for making proteins. (medlineplus.gov)
These changes involve a region of the long (q) arm of chromosome 7 containing the FOXP2 gene. (medlineplus.gov)
Some individuals with FOXP2 -related speech and language disorder have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. (medlineplus.gov)
Less commonly, FOXP2 -related speech and language disorder results from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two copies of chromosome 7 from the mother instead of one from each parent (a phenomenon called maternal uniparental disomy or maternal UPD, which is described in more detail with Russell-Silver syndrome, below). (medlineplus.gov)
It remains unclear how having two maternal copies of chromosome 7 affects the activity of the FOXP2 gene. (medlineplus.gov)
Additional features that are sometimes associated with FOXP2 -related speech and language disorder, including delayed motor development and autism spectrum disorders, likely result from changes to other genes on chromosome 7. (medlineplus.gov)
For example, in affected individuals with a deletion involving chromosome 7, a loss of FOXP2 is thought to disrupt speech and language development, while the loss of nearby genes accounts for other signs and symptoms. (medlineplus.gov)
These chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the GLI3 gene. (medlineplus.gov)
In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material between chromosome 7 and another chromosome. (medlineplus.gov)
The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)

We also identify AA-specific copy-number-based arm-, focal- and gene-level recurrent features in lung cancer, including higher frequencies of PTEN deletion and KRAS amplification. (nature.com)
NEW YORK - New research suggests circularized DNA falling outside of linear chromosomes may serve as a recurrent source of somatic rearrangements in neuroblastoma, a pediatric cancer affecting immature cells in the sympathetic nervous system. (genomeweb.com)

As part of our mission to eliminate cancer, MD Anderson researchers conduct hundreds of clinical trials to test new treatments for both common and rare cancers. (mdanderson.org)
Over the past 10 years, following the disclosure of the Human Genome Project's results, advances in sequencing technologies have reached a point where NGS-based diagnostics can be considered for cancer clinical research. (hospitalhealthcare.com)
Fortunately, the seeds for the required supporting infrastructure for NGS technologies in cancer clinical research have been sown and hopefully we will soon see the fruits of our labour. (hospitalhealthcare.com)
The European Organisation for Research and Treatment of Cancer (EORTC), for example, has already launched a novel collaborative molecular screening programme, SPECTA, Screening Patients for Efficient Clinical Trial Access for patients with cancer, an initiative which implements NGS technology to help provide patients with personalised treatment. (hospitalhealthcare.com)
In a clinical setting, it could help find expressed gene fusions for personalized therapy. (biomedcentral.com)
Prior to his move to Georgetown, Dr. Atkins was Deputy Chief of the Division of Hematology/Oncology, Director of the Cancer Clinical Trials Office, Director of the Cutaneous Oncology Program, and Director of the Biologic Therapy Program at Beth Israel Deaconess Medical Center (BIDMC). (melanoma.org)
The findings have been incorporated into clinical trials underway at St. Jude, through the Children's Oncology Group and internationally, that aim to improve cure rates and long-term outcomes for children with acute lymphoblastic leukemia, medulloblastoma, diffuse intrinsic pontine glioma and other childhood cancers. (stjude.org)
Current clinical trials designed to improve treatment and outcomes for children with cancer reflect the findings and insights gained from the project. (stjude.org)
The datasets included transcriptome-wide expression and matched clinical follow-up data to detect and characterize gene fusions in PCa. (biomedcentral.com)
BACKGROUND: Three-dimensional visualization preoperative evaluation (3D-VPE) and enhanced recovery after surgery (ERAS) have been suggested to improve outcomes of cancer surgery in patients, yet little is known regarding their clinical benefit in patients with gallbladder cancer (GBC). (bvsalud.org)
In addition, the use of gene expression profiling in breast cancer management has matured in the past few years propelled by the results of a prospective clinical trial . (cdc.gov)
Of the 379 genomic clinical guidelines in PHGKB as of January 20 2020 that have a specific recommendation for use in practice , 181 (48%) are relevant to cancer. (cdc.gov)
Rampant inter-patient and intra-tumor heterogeneity present formidable challenges in the clinical management of triple-negative breast cancer (TNBC) and mandate a 'divide-and-conquer' approach wherein deep biomarker profiling drives patient segmentatio. (ebsco.com)
Clinical Cancer Research , 26 (8), 1965-1976. (wustl.edu)
This review focuses on ctDNA and discusses the biological and technical aspects, clinical applications in cancer diagnostics, and perspectives and challenges. (biomedcentral.com)
It is a multi-phase, multi-year, international data-sharing project that aims to catalyze precision cancer medicine through identification of novel therapeutic targets, design of biomarker-driven clinical trials, and identification of genomic determinants of response to therapy. (esmo.org)
Ultimately, the platform can improve clinical decision-making and increase the likelihood that cancer treatments patients receive are beneficial. (esmo.org)
The GENIE platform is built to integrate and link clinical-grade cancer genomic data with clinical outcomes data. (esmo.org)
The database currently contains approximately 19,000 genomic and clinical records generated in CLIA-/ISO-certified laboratories and will continue to grow as additional patients are treated at each of the participating centres and as more centres join the consortium. (esmo.org)
Each of the participating centres has extensive clinical data characterising individual patients via Electronic Health Record systems, and GENIE is therefore uniquely positioned to integrate genomic data with clinical data and harmonize such data across multiple cancer centres. (esmo.org)
The first integrated GENIE dataset (version 1.1) provides genomic and limited clinical data for 18,804 genomically profiled samples across 18,324 patients at 8 academic medical centres, each of which utilized genomic strategies tailored to best support their local clinical programmes. (esmo.org)
The Sweden Cancerome Analysis Network - Breast (SCAN-B) Initiative: a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine. (lu.se)
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC). (cdc.gov)
The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)

Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
In-frame fusions that produce chimeric proteins often drive cancer development and progression via dysregulation of signaling pathways related to the fusion genes. (biomedcentral.com)
In this study, we investigated gene fusions in PCa, characterized potential novel candidates, and explored their role as prognostic markers for PCa progression. (biomedcentral.com)
However, none of the prognostic models incorporates parameters reflecting the status of chromosomal rearrangements and transcriptional disorganization in a patient sample, even though gene fusions are known to drive PCa development and progression [ 8 ]. (biomedcentral.com)
The purpose of this study was to identify genomic mechanisms that contribute to the development and progression of CRPC. (wustl.edu)
The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)

We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)
Our pipeline uses discordant read pairs to identify supported fusion events and analyzes soft-clipped read alignments to determine genomic breakpoints. (biomedcentral.com)
It can be used to identify high-quality gene fusions for further bioinformatic and experimental studies, including validation of genomic breakpoints and studies of the mechanisms that generate fusions. (biomedcentral.com)
An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)

Fusion genes are created when two separate genes are merged as a result of a chromosomal rearrangement. (biomedcentral.com)

The genomic and transcriptomic landscape of advanced renal cell cancer for individualized treatment strategies. (cdc.gov)

From the point of view of the cancer-causing somatic cell population, this is evolution driven by mutation and selection. (nih.gov)
We sought to determine if olaparib, the poly ADP-ribose polymerase inhibitor (PARPi) commonly treated for BRCA mutation, can inhibit cancer development via a therapeutic trial on this patient. (bvsalud.org)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
Defects in these pathways can lead to replication errors, loss or rearrangement of genomic material, mutation or cancer and eventual death. (ncl.ac.uk)
Our understanding of the role of repair proteins in the development of adaptive immunity by VDJ recombinationD antibody isotype class switching and affinity maturation by somatic hyper-mutation has made significant progress over the last few years, partly by the identification of new genes involved in human disease. (ncl.ac.uk)
Since the MET amplification is a common somatic mutation, the Golden Helix CancerKB catalog provided a premade interpretation for the MET gene summary (Figure 2). (goldenhelix.com)
controlled for UV-induced mutational load by comparing mutated genes-of-interest against a baseline level of intronic mutation. (frontiersin.org)
Other people with this condition have a variant (also known as a mutation) within the FOXP2 gene itself. (medlineplus.gov)
Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced to band 15q26.1. (medscape.com)

Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
One role is to control the regulation of genes (the expression of proteins from genes). (answersingenesis.org)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
The gene encoding these proteins is FANCM . (medscape.com)

Journal of kidney cancer and VHL 2023 8 10 (3): 17-22. (cdc.gov)

Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
Genes that are commonly mutated in lung adenocarcinoma include TP53, EGFR, KRAS and NF1(3). (goldenhelix.com)

How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
Incorporating molecular biomarkers, such as transcriptome-wide expression signatures, improves patient stratification but so far excludes chromosomal rearrangements. (biomedcentral.com)
This included sessions dedicated to systems biology on immunotherapy, immunogenicity and gene expression profiling, biomarkers, and combination treatment strategies. (biomedcentral.com)
Also integrated into the Cancer Add-On is our Cancer Knowledge Base (CancerKB), which provides comprehensive interpretations for many common cancer genes and biomarkers for specific tumor types. (goldenhelix.com)

Fig. 6: Landscape of germline HRD across AA and EA patients in the pan-cancer and LUSC TCGA cohort. (nature.com)
Pathogenic germline sequence variants in two major susceptibility genes BRCA1 and BRCA2 confer a high relative risk and explain a proportion of familial breast cancer. (lu.se)

We analyzed structural rearrangements at the genome-wide level and carried out a detailed structural rearrangement analysis of the AR locus. (wustl.edu)

Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)

It is also located near BRCA1, a breast cancer tumor suppressor gene. (wikipedia.org)
The first 140 amino acids of the TMEM106A protein, including portions of DUF1356 and a transmembrane region, are deleted along with BRCA1 during early-onset breast cancer. (wikipedia.org)
Breast cancer mouse models. (mdanderson.org)
One trainee focused on developing in vitro growth conditions to optimize expansion of luminal epithelial cells and c-KIT+ progenitor cells to explore the early stages of breast cancer. (ca.gov)
The targeted smart drug revolution can be considered to have started in the late 1990s and early 2000s with the approval of trastuzumab (Herceptin®) for breast cancer patients with HER2 amplifications and shortly thereafter imatinib (Gleevec®) for patients with BCR-ABL1-driven chronic myeloid leukaemia (CML). (ddw-online.com)
Tackling intra- and inter-tumor heterogeneity to combat triple negative breast cancer. (ebsco.com)
CTCs were initially detected in 1869 by an Australian physician Thomas Ashworth in a breast cancer patient's blood [ 23 ]. (biomedcentral.com)
Breast cancer is the major malignant disease in women and has a continuously rising incidence. (lu.se)
The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer. (lu.se)
Identification of Subtypes in Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Reveals a Gene Signature Prognostic of Outcome. (lu.se)
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer. (cdc.gov)

During this period, tremendous success has been achieved in the fields of decoding of human genome, technological advancement of new era of human genome applications, toward personalized genomes and discovery of rare variants, leveraging genome sequencing to impact on cancer researches and mammalian evolution and population structure. (springer.com)
In 2010, St. Jude Children's Research Hospital and Washington University School of Medicine launched a $65 million, three-year project to sequence the complete normal and cancer genomes of 600 pediatric cancer patients. (stjude.org)
In all, researchers sequenced the complete and normal genomes of about 800 pediatric cancer patients. (stjude.org)
By comparing the complete genomes from cancerous and normal cells for about 800 patients, we have successfully pinpointed the genetic factors behind some of the toughest pediatric cancers. (stjude.org)
We are now using multiple approaches to analyze cancer genomes even more deeply. (stjude.org)
Research from PNRI's McLaughlin Lab has found that our genomes harbor retrocopies of a specific family of genes called APOBEC3, which play a crucial role in restricting viral infections. (pnri.org)

Gene fusions are commonly detected in RNA sequencing (RNA-Seq) data in the form of chimeric fusion transcripts. (biomedcentral.com)
NanoString has developed the panel Human Cancer CN for detection of CNV of 87 genes commonly amplified or deleted in cancer. (bioxpedia.com)

Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. (lu.se)
AR gene rearrangements occurring in the context of AR amplification correlated with AR overexpression. (wustl.edu)
The nCounter® Analysis System from NanoString Technologies offers single molecule detection with no amplification, and can be used for gene expression profiling, gene fusion, and CNV analysis. (bioxpedia.com)
This blog will show how VSClinical's Cancer Add-on can be used to report on a copy number amplification associated with non-small cell lung cancer (NSCLC) using the CancerKB catalog and other available resources within the platform. (goldenhelix.com)
By comparing the coverage profile stored in the patients BAM file to a set of references, the VS-CNV caller identified an exon 14 amplification in the MET gene that was without sample and event quality flags. (goldenhelix.com)
Additionally, CancerKB highlights that abnormal activation of MET, via gene amplification, is common in non-small cell lung cancer and that there are potential therapeutic targets (5). (goldenhelix.com)

HR comprises different pathways: gene conversion (GC) that accurately repair the lesion by copying the homologous sequence, single strand annealing (SSA) or break induced replication (BIR) that can both lead to loss of genetic information. (cea.fr)
The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
Several DNA repair pathways have evolved to recognise and repair DNA damaged by exogenous and endogenous agents, in order to maintain genomic integrity. (ncl.ac.uk)
The summary states that the MET gene encodes a receptor tyrosine kinase that binds hepatocyte growth factor (HGF), which in turn activates downstream pathways involved in cell survival, proliferation, invasion, migration, and angiogenesis (4). (goldenhelix.com)

This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)

Whole-genome sequencing (WGS) has the advantage of being able to detect structural variants at a genomic scale, but it is challenging to assess whether a fusion event found purely at the DNA level has the potential to be processed into a functional transcript. (biomedcentral.com)
Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)
Few other high-risk genes are known and current knowledge supports a polygenic model, a role of common low-risk variants that may interact in multiplicative fashion, but also of rare intermediate-risk gene variants. (lu.se)

Owing to their function in homologous recombination repair, much research has focused on the unstable genomic phenotype of BRCA1/2 mutant cells manifest mainly as large-scale rearrangements. (crick.ac.uk)
The gain and losses of important genes and regulatory elements due to SVs will impact phenotype causing disease such as cancer and sex development disorders. (mdanderson.org)

Here, by taking advantage of in situ Hi-C, RNA-sequencing, and chromatin immunoprecipitation sequencing (ChIP-seq), we investigated structural reorganization and functional changes in chromosomal compartments, topologically associated domains (TADs), and CCCTC binding factor (CTCF)-mediated loops in gallbladder cancer (GBC) tissues and cell lines. (bvsalud.org)

The discoveries of the malfunction underlying the type called 'Ph-like ALL' will aid in designing treatments for the leukemia, researchers said, and also offer useful lessons for investigators studying similar leukemias and other types of cancer. (news-medical.net)
The researchers, led by corresponding author Charles Mullighan, M.B.B.S., M.D., a member of the St. Jude Department of Pathology, published their findings in the February 8 issue of the journal Cancer Cell . (news-medical.net)
The researchers expect that these trials will commence in the near future, because drugs that inhibit the over-activated biological pathway in the leukemia already exist and are widely used to treat other cancers. (news-medical.net)
The researchers also cited the case of an adult patient at MD Anderson Cancer Research Center, Houston, whose genetic analysis revealed EPOR-rearranged ALL. (news-medical.net)
In the April 25 issue of Cell, the scientists, led by researchers from Weill Cornell Medical College, the Broad Institute, Dana-Farber Cancer Institute and the University of Trento in Italy, dub this process "punctuated cancer evolution," akin to the theory of human evolution that states changes in a species occur in abrupt intervals. (enewspf.com)
After discovering how DNA abnormalities arise in a highly interdependent manner, the researchers named these periodic disruptions in cancer cells that lead to complex genome restructuring "chromoplexy. (enewspf.com)
In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
St. Jude researchers sought to fill that void with the largest investment and most comprehensive effort to identify and understand the genetic origins of cancer. (stjude.org)
Importantly, researchers will also be able to compare and cross-validate the clinically derived datasets generated by GENIE with other publicly available datasets including The Cancer Genome Atlas Project and the International Cancer Genome Consortium. (esmo.org)
Researchers are studying genes whose functions suggest that they might be related to particular features. (medlineplus.gov)

Li developed and applied the genomic analytical method used to define the truncations. (news-medical.net)
The goal was to define the genomic landscape of pediatric cancer, including some of the least understood and most challenging cancers. (stjude.org)

In Homo sapiens, TMEM106A is located next to NBR1, a gene identified as an ovarian tumor antigen monitored in ovarian cancer. (wikipedia.org)

Selected papers will be invited to publish instead (with fees) in a special issue of a journal (under negotiation with Genes, Frontiers in Genetics, Journal of Bioinformatics and Computational Biology and other journals), with a short abstract in the proceedings. (wikicfp.com)
abstract = "Purpose: Prostate cancer is the second leading cause of male cancer deaths. (wustl.edu)
Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)

We describe here how coupling of genomic and molecular profiling of cancer with functional testing of drugs in patient-derived cell samples will make it possible to customise patient treatments as well as to identify biomarker patterns and genetic aberrations that explain the drug responses. (ddw-online.com)
Dr. Wells held an Adjunct Professorship in the Department of Biochemistry and Molecular Biology at the University of Texas M.D. Anderson Cancer Center (1991-2008). (gf.org)
There is an urgent need to identify molecular signatures in small cell lung cancer (SCLC) that may select patients who are likely to respond to molecularly targeted therapies. (biomedcentral.com)
Molecular aberrations have been identified in patients with non-small cell lung cancer (NSCLC) over the past 10 years and revolutionised treatment strategies [ 13 ]. (biomedcentral.com)

Thus, the challenge is to systematically develop all these drugs to optimal indications across all cancer types and subtypes as well as to tailor treatments of individual patients based on the underlying mechanisms of disease and driver signals. (ddw-online.com)

The complex genomic restructuring we discovered, which occurs at discrete times during tumor development, is a unique and important model of carcinogenesis which likely has relevance for other tumor types. (enewspf.com)

Following detection, we annotated the gene fusions using published databases for gene fusions in cancer. (biomedcentral.com)
Mertens F, Johansson B, Fioretos T, Mitelman F. The emerging complexity of gene fusions in cancer. (lu.se)

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). (news-medical.net)
Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)

The first solid tumor exomes to be investigated were from 11 breast and 11 colorectal cancer tissue samples. (frontiersin.org)

David Botstein's fundamental contributions to modern genetics include the development of genetic methods for understanding biological functions and the discovery of the functions of many yeast and bacterial genes. (nih.gov)

In the 1990s Botstein, having moved to Stanford University School of Medicine, collaborated with Patrick O. Brown of Stanford in exploiting DNA microarrays to study genome-wide gene expression patterns in yeast and in human cancers. (nih.gov)
Inter- and intra-species variation in genome-wide gene expression of Drosophila in response to parasitoid wasp attack. (ebsco.com)

This gene spans the second most common chromosomal fragile site, FRA16D and as consequence is frequently affected by genomic abnormalities and chromosomal rearrangements. (mdanderson.org)
Mitelman F. Cancer: Chromosomal Abnormalities. (lu.se)

Knowing what actually happens over time to the genome in cancer may lead to more accurate diagnosis of disease and, hopefully, more effective treatment in the future," says Dr. Rubin, also the Homer T. Hirst III Professor of Oncology, professor of pathology and laboratory medicine and professor of pathology in urology at Weill Cornell and a pathologist at NewYork-Presbyterian/Weill Cornell. (enewspf.com)
Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. (biomedcentral.com)
These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)
The method was used in subsequent years to identify several human disease genes, such as Huntington's and BRCA1. (nih.gov)
These examples marked the beginning of rational drug design, which takes into account knowledge of disease pathogenetics and has lead to the concept of personalised cancer medicine. (ddw-online.com)
Obesity-related diseases including heart disease, stroke, type 2 diabetes, and cancer are a leading cause of preventable death. (cshlpress.com)
To relate the occurrence of gene fusions to Gleason Grading Groups and disease prognosis, we performed survival analyses using the Kaplan-Meier estimator, log-rank test, and Cox regression. (biomedcentral.com)
3 HERVs also play a role in disease, and have been linked to various cancers and male infertility. (answersingenesis.org)
Castration-resistant prostate cancer (CRPC) is a lethal stage of the disease that emerges when endocrine therapies are no longer effective at suppressing activity of the androgen receptor (AR) transcription factor. (wustl.edu)
Analysis of CTCs in peripheral blood of cancer patients holds great promise for the early detection of invasive cancer and the management of advanced disease. (biomedcentral.com)

Indeed, we recently demonstrated that WWOX modulates HDL metabolism and lipoprotein gene expression. (mdanderson.org)
The three dimensional organization of the genome in the nucleus, previously known to impact on gene expression, has recently emerged as a key regulator of DNA repair. (cea.fr)
This analysis led to the discovery of a population of preadipocyte cells whose gene expression is remodeled in an age-specific fashion. (ca.gov)
Fig. 4: Analysis of expression of genes in neoloops. (nature.com)
This can lead to the formation of a chimeric gene that combines functional domains from both fusion partner genes, or to a promoter swapping event, where the promoter of one gene is replaced with another, leading to altered gene expression. (biomedcentral.com)
The laboratory of Dr. Wells has made numerous seminal contributions to our understanding of unusual DNA structures related to gene expression. (gf.org)
Altered three-dimensional architecture of chromatin influences various genomic regulators and subsequent gene expression in human cancer. (bvsalud.org)
We observed that the chromosomal compartment A/B switch was correlated with CTCF binding levels and gene expression changes. (bvsalud.org)
Cancer-specific enhancer-promoter loops, which contain multiple transcription factor binding motifs, acted as a central element to regulate aberrant gene expression. (bvsalud.org)
Background: The Afirma gene expression classifier (GEC) is used to assess malignancy risk in indeterminate thyroid nodules (ITNs) classified as Bethesda category III/IV. (ebsco.com)
AR gene rearrangements promoted expression of diverse AR-V species. (wustl.edu)
Cell lines with experimentally derived AR gene rearrangements displayed high expression of tumor-specific AR-Vs andwere resistant to endocrine therapies, including the AR antagonist enzalutamide. (wustl.edu)
BioXpedias laboraotories offer gene expression profiling using the NanoString nCounter panels. (bioxpedia.com)
Most gene expression panels come in both a human and mouse version. (bioxpedia.com)
In addition to gene expression panels, miRNA expression panels have also been developed for both human, mouse and rat miRNA profiling. (bioxpedia.com)

Fig. 1: Differences in GI, HRD and CHTP across AA and EA patients with lung cancer from the NCI-MD and TCGA cohorts. (nature.com)
Fig. 4: Landscape of SCNA of lung cancer drivers AA and EA patients in the NCI-MD cohort. (nature.com)
Fig. 5: Landscape of GI, HRD and CHTP across AA and EA patients with lung cancer in the TCGA cohort. (nature.com)
In analysis of cells from patients with ALL, Iacobucci found the characteristic rearrangements in all the leukemic cells, suggesting these changes were fundamental to the development of cancer. (news-medical.net)
Your gift will help support our mission to end cancer and make a difference in the lives of our patients. (mdanderson.org)
Our final student worked to introduce a "suicide gene" construct into engineered in iPSCs for the generation of the insulin-producing -cell to treat type 1 diabetes patients. (ca.gov)
Given that cancers are extremely heterogeneous between individual patients and within the tumour itself, optimised, personalised and combinatorial treatments are often required to achieve significant responses. (ddw-online.com)
Moreover, it would not be possible to obtain sufficient amounts of tumour material from patients with certain types of cancer, and the development costs would ultimately be prohibitive. (hospitalhealthcare.com)
Gene fusions can help identify patients who are likely to respond to targeted therapies, allowing selection of the most appropriate treatment option for each patient. (biomedcentral.com)
The project included whole exome and whole transcriptome sequencing of an additional 1,200 patients, which included 23 different cancers. (stjude.org)
More than 2,500 patients have been evaluated by clinic staff and close to 500 families with an underlying cancer predisposition have been identified. (stjude.org)
Precision oncology has had some major successes… And yet, the overall effect of precision medicine on care for patients with cancer has been modest. (cdc.gov)
A recent study estimated that about 8% of patients with cancer are eligible for precision medications and 5% would actually benefit from them. (cdc.gov)
Two studies used targeted gene panels and identified genetic aberrations in 15 % (9 gene panel) and 6.2 % (6 gene panel) of patients with SCLC [ 2 , 15 ]. (biomedcentral.com)
A more comprehensive analysis of 236 cancer genes using next generation sequencing demonstrated all 98 patients to have at least one genomic alteration [ 14 ]. (biomedcentral.com)
PD-1 and CTLA-4 targeting therapies increase average life expectancy for cancer patients. (biomedcentral.com)
Experimental Design: We used whole-genome and targeted DNA-sequencing approaches to identify mechanisms underlying CRPC in an aggregate cohort of 272 prostate cancer patients. (wustl.edu)
Though challenges remain, clinicians are in the early stages of using genetic data to make treatment decisions for cancer patients. (frontiersin.org)
this acts as an additional factor for the high incidence of cancers in Bloom syndrome patients. (medscape.com)

Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. (lu.se)

Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. (lu.se)
We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. (lu.se)
These findings show that chromothripsis is a major process that drives genome evolution in human cancer. (lu.se)

We have, for the first time, mapped the genetic landscape of prostate cancer as it changes over time," says Dr. Garraway, a senior associate member of the Broad Institute and associate professor at the Dana-Farber Cancer Institute and Harvard Medical School. (enewspf.com)
In addition, he was the leader of the Kidney Cancer Program at the Dana-Farber/Harvard Cancer Center and Professor of Medicine at the Harvard Medical School. (melanoma.org)

Many of the ed either from external sources or excitation events are much closer in vitro and in vivo studies investi- through internal exposure as a re- together for low-energy charged par- gating the mechanisms underlying sult of ingestion, inhalation, dermal ticles, which are considered to be cancer risk from exposure to ionizing absorption, or injection of radionu- high-LET radiation. (who.int)

The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
The mutated or otherwise damaged versions of these genes are called oncogenes. (cancerquest.org)
We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)
Selected oncogenes that have been associated with numerous cancer types are described in more detail below. (cancerquest.org)
Alternative inhibitory receptors have been identified that may be targeted for anti-tumor immune therapy, such as lymphocyte-activation gene-3 (LAG-3), as have several potential target oncogenes for molecularly targeted therapy, such as tyrosine kinase inhibitors. (biomedcentral.com)
This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)

Surgery, adjuvant systemic treatment, and targeted therapies have markedly improved cancer outcomes over the past 10 years. (biomedcentral.com)

TMEM106A is a gene that encodes the transmembrane protein 106A (TMEM106A) in Homo sapiens. (wikipedia.org)
HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)

In cancer, genomic rearrangements can create fusion genes that either combine protein-coding sequences from two different partner genes or place one gene under the control of the promoter of another gene. (biomedcentral.com)
These fusion genes can act as oncogenic drivers in tumor development and several fusions involving kinases have been successfully exploited as drug targets. (biomedcentral.com)

These developed HT-NGS strategies addressed our anticipated future needs of throughput sequncing and cost, in a way which enabled its potential multitude of current and future applications in mammalian genomic research. (springer.com)
The HT-NGS is one of the great challenges of today's genomic research. (springer.com)
City of Hope's Train, Educate and Accelerate Mastery of Stem cell research (TEAMS) program was built around four key areas of regenerative medicine research: Cancer Stem Cells, Hematopoietic Stem Cells, Tissue-Specific Stem Cells and Human Pluripotent Stem Cells. (ca.gov)
The characterisation of the genome and epigenome of many tumour types has been one of the focus areas of cancer research in recent years. (ddw-online.com)
Large-scale whole-genome or whole-exome sequencing might not appear to be the first choice for this type of screening strategy, but today high throughput, low cost, targeted genome sequencing is much further developed in the field of cancer research and diagnostics. (hospitalhealthcare.com)
In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
He served as Director of the DF/HCC Kidney Cancer Specialized Program of Research Excellence (SPORE) grant and co-principal investigator of the DF/HCC Skin Cancer SPORE since their inceptions in 2003 and 2001, respectively. (melanoma.org)
Dr. Atkins' major research interests are cancer immunotherapy, treatment of melanoma and renal cell carcinoma, predictive markers for response to biologic therapy, and antiangiogenic and targeted therapies. (melanoma.org)
His research work has been funded by the National Cancer Institute, various foundations, and several pharmaceutical companies. (melanoma.org)
The human tumor samples provide the global research community with a free resource to advance understanding and treatment of pediatric cancer. (stjude.org)
The New York Times featured Dr. Michael Metzger's groundbreaking research on transmissible cancer in clams in: Bizarre Cancer Has Been Spreading Among Shellfish for Centuries, Studies Find. (pnri.org)
This direct observation results in some of the longest read lengths in genomic research. (mdanderson.org)
Multiple panels ranging from 200-770 genes have been developed within different areas of research, including immunology, oncology and neurology. (bioxpedia.com)

In 2015, the United States launched the Precision Medicine Initiative (PMI) "to bring us closer to curing diseases like cancer and diabetes - and to give all of us access to the personalized information we need to keep ourselves and our families healthier. (cdc.gov)
In a pair of recent studies, PNRI's Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases. (pnri.org)

While whole exome sequencing (WES) remains popular and effective as a method of genetically profiling different cancers, advances in sequencing technology has enabled an increasing number of whole-genome based studies. (frontiersin.org)

Anatomy16

Organisms7

Diseases49

Chemicals and Drugs47

Analytical, Diagnostic and Therapeutic Techniques and Equipment46

Phenomena and Processes101

Disciplines and Occupations3

Information Science7

Health Care10

Mutations40

Tumors21

Alterations9

Genomics17

Instability4

Chromosome17

Recurrent2

Clinical24

Progression6

Breakpoints4

Chromosomal rearrangement1

Transcriptomic1

Mutation9

Proteins5

20231

TP534

Biomarkers4

Germline2

Locus1

20191

Breast cancer11

Genomes6

Commonly2

Amplification6

Pathways4

Contribute to tumor1

Variants3

Phenotype2

Structural1

Researchers10

Define2

Ovarian cancer1

Abstract5

Molecular4

Subtypes1

Tumor types1

Fusions in cancer2

Chromosomes2

Colorectal cancer1

Genetics1

Genome-wide gene expression2

Abnormalities2

Disease10

Expression15

Patients19

Mutational1

Chromothripsis3

Harvard Medica2

Mechanisms1

Oncogenes8

Outcomes1

Encodes2

Fusion genes2

Research13

Diseases2

Different cancers1