Mutations cells. Medical search. Frequent questions

If you have non-small-cell lung cancer (NSCLC), your disease began with changes to your genes. (webmd.com)
Genes are pieces of DNA inside each of your cells. (webmd.com)
Turn on" the genes that help your cells grow, divide, or stay alive. (webmd.com)
Turn off" the genes that make sure cells divide or die at the right time. (webmd.com)
The result of all these changes to your genes: Some cells become cancerous and grow out of control. (webmd.com)
In this mutation, two genes fuse together to create a new one. (webmd.com)
Your doctor may also mention mutations on the AKT, PTEN, or mTOR genes, which are linked to PIK3CA. (webmd.com)
Researchers found that iPSCs made from donors in their late 80s had twice as many mutations among protein-encoding genes as stem cells made from donors in their early 20s. (sciencedaily.com)
Of the 336 different mutations that were identified in the iPSCs generated for the study, 24 were in genes that could impair cell function or trigger tumor growth if they malfunctioned. (sciencedaily.com)
A cell line can harbor thousands of mutations and still be usable for research as long as those mutations are concentrated in irrelevant noncoding areas or don't hit important genes, Nik-Zainal says. (the-scientist.com)
The scientists found that while this normal genetic mutation is mostly well targeted to the genes for antibodies, a surprising amount of collateral damage occurs elsewhere in the genome - it is this off-target mutation that can lead to lymphocytes becoming cancerous. (york.ac.uk)
The considerably greater cell-to-cell variation than person-to-person variation suggests that changes within different areas of the body over a person's lifetime, such as certain infections and inflammation, are more likely to cause mutations linked with cancer and disease than inherited mutations in genes. (york.ac.uk)
Using both fetal and adult human skin cells, the researchers introduced the four genes previously reported sufficient for cell reprogramming and compared the efficiency of reprogramming in the presence or absence of large T antigen. (hopkinsmedicine.org)
This research shows that across cancer types a relatively consistent small number of such mutated genes is required to convert a single normal cell into a cancer cell, but that the specific genes chosen differ according to cancer type. (zmescience.com)
Defects in genes, or genes that fail to appear altogether, are due to a process called mutation. (scienceclarified.com)
Mutations are alterations in existing genes,' says evolutionary biologist Dennis O'Neil. (scienceclarified.com)
Since humans have approximately 32,000 genes, it is to be expected that most sex cells contain at least one mutation of some sort. (scienceclarified.com)
Mutations in a gene that helps regulate when genes are switched on and off in cells have been found to cause rare cases of Wilms tumor, the most common kidney cancer occurring in children. (oncologynurseadvisor.com)
fAD-causing mutations in the genes coding for amyloid precursor protein ( APP ), presenilin 1 ( PSEN1 ) and presenilin 2 ( PSEN2 ) affect the production of Aβ in the central nervous system (CNS), implicating altered APP cleavage and processing in the AD disease mechanism [ 1 ]. (nature.com)
A subset of these samples with DNA availability was tested by ddPCR and UltraSEEK MassARRAY for mutation detection in 5 genes (IDH1, PIK3CA, KRAS, BRAF, and NRAS). (oncotarget.com)
Along with strong driver mutations and passenger mutations predicted to have neutral effects, the team's analysis pointed to a set of passenger mutations suspected of having intermediate effects on genes from immune, metabolic, and other pathways. (genomeweb.com)
A gene mutation (myoo-TAY-shun) is a change in one or more genes. (kidshealth.org)
The various forms of Waardenburg syndrome (WS), a neurocristopathy, arise from mutations in multiple genes. (medscape.com)
Novel mutations of PAX3 , MITF , and SOX10 genes have been described in Chinese patients with WS1 or WS2. (medscape.com)
Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (Al) at the respective loci. (lu.se)

Mutations in epidermal growth factor receptor ( EGFR ), KRAS, and anaplastic lymphoma kinase ( ALK ) are mutually exclusive in patients with NSCLC, and the presence of one mutation in lieu of another can influence response to targeted therapy. (medscape.com)
On September 15, 2021, the Food and Drug Administration granted accelerated approval to mobocertinib (Exkivity, Takeda Pharmaceuticals, Inc.) for adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 20 insertion mutations, as detected by an FDA-approved test, whose disease has progressed on or after platinum-based chemotherapy. (fda.gov)
2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. (scielo.br)
2005) Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. (scielo.br)
It occurs more frequently in male smokers, and the epidermal growth factor receptor ( EGFR ) gene is often mutation‑free. (spandidos-publications.com)

The type of gene mutation you have often depends on what kind of lung cancer you have. (webmd.com)
Anyone can get a gene mutation that causes lung cancer. (webmd.com)
For example, cells made from iPSCs for a bone marrow transplant would be potentially dangerous if they contained a TET2 gene mutation linked to blood cancer, which surfaced during the study. (sciencedaily.com)
The pathological diagnosis was SMARCA4‑dNSCLC with an EGFR gene mutation. (spandidos-publications.com)
What Is a Gene Mutation? (kidshealth.org)
If a parent carries a gene mutation in their egg or sperm, it can pass to their child. (kidshealth.org)

The abundance of clonally expanded point mutations in individual cells of normal tissues also suggests that the recently discovered accumulation of mtDNA mutations in tumors may be explained by processes that are similar or identical to those operating in the normal tissue. (nih.gov)
The T cells with the TSC2 mutation were also better able to multiply and be activated to fight infections and to counter tumors, despite being in an environment that was more acidic or had lower oxygen than their nonmutated counterparts. (medicalxpress.com)
The researchers plan to do further studies with solid tumors such as lung, liver and colon cancers, which, compared with blood tumors such as leukemia, have been harder to achieve complete success with T cell-based therapies. (medicalxpress.com)
In a second study, the molecular profiles of a large cohort of KRAS wild-type (WT) pancreatic tumors were evaluated using DNA sequencing and whole transcriptome sequencing (WTS), which were then classified based on specific types of KRAS mutations using a 592-gene DNA sequencing panel. (carislifesciences.com)
A study, "Genomic Landscape and Immune Phenotype of Malignant Pleural Mesothelioma" (Abstract 9056/Poster 249), found that the majority of mesothelioma tumors harbor at least one alteration in key cellular pathways, with homologous recombination (HR) pathway mutations the most common. (carislifesciences.com)
A suitable clinical-grade platform is required for detection of somatic mutations with high sensitivity in cell-free DNA (cfDNA) of patients with solid tumors. (oncotarget.com)
We assessed plasma samples from 46 patients with various advanced metastatic solid tumors and known mutations by deep sequencing using an Ampliseq cancer hotspot panel V2 on Ion Proton. (oncotarget.com)
With the help of a functionally informative sequencing method called FunSeq2, the researchers identified non-driver, somatic mutations and their predicted functional impact in 2,548 tumors profiled for the Pan Cancer Analysis of Whole Genomes (PCAWG). (genomeweb.com)

Researchers are working all the time to look for new kinds of gene mutations. (webmd.com)
Researchers who looked at the effect of aging on induced pluripotent stem cells (iPSCs) found that genetic mutations increased with the age of the donor who provided the source cells, according to study results. (sciencedaily.com)
Researchers at the Scripps Translational Science Institute (STSI) and The Scripps Research Institute (TSRI) who looked at the effect of aging on induced pluripotent stem cells (iPSCs) found that genetic mutations increased with the age of the donor who provided the source cells, according to study results published by the journal Nature Biotechnology . (sciencedaily.com)
Unexpectedly, iPSCs made from blood cells donated by people over 90 years old actually contained fewer mutations than what researchers had expected. (sciencedaily.com)
Researchers said the reason for this could be tied to the fact that blood stem cells remaining in elderly people have been protected from mutations over their lifetime by dividing less frequently. (sciencedaily.com)
Researchers make hiPSCs by harvesting somatic cells-often from skin-from a person and then reprogramming them to enter an embryonic-like state. (the-scientist.com)
In order to deposit a cell line someplace like HipSci, researchers only have to demonstrate that the stem cells don't have any missing or duplicated chromosomes or other largescale genetic errors-analyses that would miss the myriad single-nucleotide mutations identified in the new paper. (the-scientist.com)
[ 7 ] researchers identified EGFR mutations in 50.5% of surgically resected lung adenocarcinomas. (medscape.com)
Researchers have developed a new technique to grow and sequence colonies of immune cells, giving new insights into how and when they accumulate mutations. (york.ac.uk)
In the study, researchers from the University of York, the Wellcome Sanger Institute, and collaborators grew and sequenced colonies of immune cells - lymphocytes known as B- and T-cells - from a single cell. (york.ac.uk)
Researchers at Johns Hopkins have established a human cell-based system for studying sickle cell anemia by reprogramming somatic cells to an embryonic stem cell like state. (hopkinsmedicine.org)
Embryonic stem cell-like clusters were visible 14 days after they initiated reprogramming and from these clusters the researchers established three different cell lines that both look and behave like human embryonic stem cells. (hopkinsmedicine.org)
One challenge to studying blood diseases like sickle cell anemia is that blood stem cells can't be kept alive for very long in the lab, so researchers need to keep returning to patients for more cells to study," says Cheng. (hopkinsmedicine.org)
To sketch that detailed map, the researchers captured the complete DNA sequences from thousands of different cells from more than 70 people who had died and donated their bodies to science. (alleninstitute.org)
Using about 500 different somatic mutations from the donors' cells, the researchers were then able to back-construct their life histories. (alleninstitute.org)
Looking at the mutations that crop up when we are just two cells big, the researchers found that those cells don't always evenly contribute to our adult bodies. (alleninstitute.org)
A new study published in Nature Communications by researchers at the University of California San Diego has found that gel manicures lead to "cell death and cancer-causing mutations in human cells," according to phys.org . (boingboing.net)
Using three different cell lines-adult human skin keratinocytes, human foreskin fibroblasts, and mouse embryonic fibroblasts-the researchers found that the use of these UV emitting devices for just one 20-minute session led to between 20 and 30 percent cell death, while three consecutive 20-minute exposures caused between 65 and 70 percent of the exposed cells to die. (boingboing.net)
The researchers caution that while the results show the harmful effects of the repeated use of these devices on human cells, a long-term epidemiological study would be required before stating conclusively that using these machines leads to an increased risk of skin cancers. (boingboing.net)
The researchers found the mutated T cells were acting no differently than normal ones when they were just resting and not being stimulated to attack a target. (medicalxpress.com)
NEW YORK - Results from a new analysis of tumor sequences, led by researchers at Yale University, suggest that passenger mutations may not be as benign as previously believed but may work together to influence tumorigenesis in more subtle ways than cancer driver mutations. (genomeweb.com)
Using third-generation nanopore sequencing technology, the researchers have characterized mtDNA heteroplasmy in single cells and described the genetic features of mtDNA in single oocytes. (edu.sa)
The researchers also used iMiGseq to analyze single human oocytes from healthy donors and single human blastoids, synthetic embryos made from stem cells, to identify rare mutations undetectable with conventional next-generation sequencing. (edu.sa)
Researchers are working to determine how these changes affect muscle cells and lead to muscle weakness and atrophy in people with L-CMD. (medlineplus.gov)

Approximate number of driver mutations needed to cause cancer by area of the body. (zmescience.com)
Probable driver mutations were present in around 1% of normal colorectal crypts in middle-aged individuals, indicating that adenomas and carcinomas are rare outcomes of a pervasive process of neoplastic change across morphologically normal colorectal epithelium. (cam.ac.uk)
W]e adapted an additive effects model from complex trait studies to show that the aggregated effect of putative passengers, including undetected weak drivers, provides significant additional power ([around 12 percent] additive variance) for predicting cancerous phenotypes, beyond PCAWG-identified driver mutations," the authors explained. (genomeweb.com)
Findings from past pan-cancer analyses indicate that the average tumor contains roughly five driver mutations, the team noted, while the vast majority of alterations fall into the passenger mutation category. (genomeweb.com)

An EGFR mutation is more common in women, people who don't smoke, and those with the adenocarcinoma type of NSCLC. (webmd.com)
EGFR is expressed on the cell surface of a substantial percentage of NSCLCs. (medscape.com)
[ 4 ] Further investigation demonstrated that the highest response rates to these TKIs were seen in patients with somatic mutations within the EGFR-TK domain, particularly exon 19 deletion, exon 21 L858R, and exon 18 G719X. (medscape.com)
In general, activating EGFR mutations are more commonly observed in patients with adenocarcinomas and no prior history of smoking, as well as in females and those of Asian descent. (medscape.com)
[ 8 ] These data support estimates from clinical trial evidence that activating EGFR mutations are seen in approximately 50% of Asians and 10% of non-Asians. (medscape.com)
Use of the EGFR-TKIs gefitinib, erlotinib, and afatinib is limited to patients with adenocarcinomas who have known activating EGFR mutations. (medscape.com)
As discussed below, activity of the EGFR monoclonal antibody cetuximab seems to be independent of EGFR mutation status. (medscape.com)
It is unclear how the presence of an acquired EGFR mutation such as T790M should influence therapeutic decisions. (medscape.com)
[ 9 ] Most importantly, patients with KRAS mutations seem to have a poorer prognosis and seem to be resistant to EGFR-TKIs, although the extent to which this might influence treatment selection remains somewhat unclear. (medscape.com)
Because EGFR and ALK mutations are mutually exclusive, patients with ALK rearrangements are not thought to benefit from EGFR-targeting TKIs. (medscape.com)
Approval was based on Study 101, an international, non-randomized, open-label, multicohort clinical trial (NCT02716116) which included patients with locally advanced or metastatic NSCLC with EGFR exon 20 insertion mutations. (fda.gov)
Molecular analysis showed mutations in both EGFR and TP53 . (spandidos-publications.com)
A comprehensive literature review underscores the infrequent occurrence of EGFR mutations in SMARCA4-dNSCLC cases ( 1 , 5 , 6 ). (spandidos-publications.com)
In the present report, a case of SMARCA4-dNSCLC displaying an EGFR mutation is reported, a finding that carries notable implications for both pathologists and clinicians. (spandidos-publications.com)
Patients with metastatic CRC who are being considered for anti-EGFR antibody therapy should be tested for the presence of a KRAS mutation prior to therapy. (medscape.com)
It is unclear to what extent the lack of response in KRAS wild-type CRC is due to BRAF mutations, but data suggest that mutated BRAF confers resistance to anti-EGFR therapy given beyond first-line treatment. (medscape.com)

Those 'normal' cell lines have as many mutations as [some] cancers," Nik-Zainal tells The Scientist . (the-scientist.com)
ROS-1 gene alterations, thought to lead to abnormal cells, have been identified in various cancers, including NSCLC. (medscape.com)
The findings could help shed light on why some cells go on to develop into cancer, particularly in some blood cancers. (york.ac.uk)
Cancer of the immune cells is known as lymphoma - a group of cancers including non-Hodgkin's lymphoma - impacts more than 13,000 people in the UK per year. (york.ac.uk)
We looked at patients with skin cancers, and we see the exact same patterns of mutations in these patients that were seen in the irradiated cells. (boingboing.net)
For instance, they found that it takes 10 mutations for a colorectal cancer, four for a breast or liver cancer, and a single mutation for thyroid and testicular cancers. (zmescience.com)
The combination of Next-Generation DNA Sequencing and whole transcriptome sequencing is giving clinicians new insights and clearer direction in how they approach non-small cell lung cancer and pancreatic cancer, two particularly difficult-to-treat cancers. (carislifesciences.com)
Colorectal cancers exhibit substantially increased mutational burdens relative to normal cells. (cam.ac.uk)
Basal cell carcinomas are often flesh-colored, making them less noticeable than some other cancers. (medicalnewstoday.com)
APC gene mutations were identified in 64% (30/47) of cancers and 7% of these (2/30) had an additional mutation in another Wnt gene. (umn.edu)

Germline mutations are more harmful than mutations in somatic cells? (physicsforums.com)
And what about mutations in germline cells? (physicsforums.com)
if a germline cell have a mutation that mutation will end up in the cells of the baby and at least one type of the baby's cells will express the mutated gene and the mutation can have an impact on the baby. (physicsforums.com)
Mutations in germline cells may not kill the germline cells immediately, but could have negative effects on an offspring generated from a germline cell carrying a mutation. (physicsforums.com)
Generally, yes, because, as you said, a mutation in the germline would be passed on to every cell in the offspring. (physicsforums.com)
So a mutation that degrades ATP production would harm only a single somatic cell, whereas in germline cells it can cause systemic, chronic, and potentially lethal birth defects in offspring. (physicsforums.com)
Suggested for: Germline mutations are more harmful than mutations in somatic cells? (physicsforums.com)
That's in contrast to a germline mutation, a mutation in a sperm or egg cell that would pass onto the next generation and appear in every cell alike. (alleninstitute.org)
Inherited mutations, such as a genetic disease that's passed from parent to child, are germline mutations. (alleninstitute.org)
We carried out Al and fluorescence in situ hybridization (FISH) analyses of BRCA2 in breast tumours from germline BRCA1 mutation carriers and vice versa. (lu.se)

Furthermore, the ability of somatic mtDNA mutations to expand (required for their phenotypic expression), as well as their apparently high incidence, reinforces the possibility that these mutations may be involved actively in various physiological processes such as aging and degenerative disease. (nih.gov)
This has revealed molecular features of rare mtDNA mutations that cause maternally inherited diseases. (edu.sa)
Yet the understanding of mtDNA mutations remains limited due to the constraints of traditional sequencing technologies," says lead author Chongwei Bi. (edu.sa)
This has revealed complex patterns of pathogenic mtDNA mutations, including single nucleotide variants and large structural variants. (edu.sa)
The iMiGseq method provides a novel means to accurately depict the complete haplotypes of individual mtDNA in single cells, offering an ideal platform for explaining the cause of mitochondrial mutation-related diseases, evaluating the safety of various mtDNA editing strategies and unraveling the links between mtDNA mutations, ageing and the development of complex diseases. (edu.sa)

The findings reinforce the importance of screening iPSCs for potentially harmful DNA mutations before using them for therapeutic purposes, said lead investigators Ali Torkamani, Ph.D., director of genome informatics at STSI, and Kristin Baldwin Ph.D., the study's co-lead investigators and associate professor of molecular and cellular neuroscience at the Dorris Neuroscience Center at TSRI. (sciencedaily.com)
Although primary mediastinal (thymic) large B-cell lymphoma has been primarily studied, its precise phenotype, molecular characteristics, and histogenesis are still a matter of debate. (nih.gov)
Genetic profiling revealed that molecular subgroups of patients undergoing allogeneic hematopoietic stem-cell transplantation for MDS may inform prognostic stratification and the selection of conditioning regimen. (ascopost.com)
A protein called TSC2 (tuberous sclerosis protein 2) can activate or block a molecular pathway that regulates the T cells. (medicalxpress.com)
Overall, their experiments show that introducing a mutation in the TSC2 gene acts as a molecular "volume knob" to dial up or down the T cells' regulatory pathway when it's actively responding to immune challenges such as a virus or a cancer antigen. (medicalxpress.com)
IRVING, Texas, May 29, 2020 - Caris Life Sciences®, a leading innovator in molecular science focused on fulfilling the promise of precision medicine, will present results from a study today that characterize KRAS mutations in patients with non-small cell lung cancer (NSCLC). (carislifesciences.com)
In this study, the molecular profiles of more than 17,000 patients with NSCLC were evaluated using the Caris Molecular Intelligence® platform, which were then classified based on specific types of KRAS mutations using a 592-gene DNA sequencing panel. (carislifesciences.com)
While KRAS mutations in pancreatic cancer are found in the majority of cases, we used comprehensive molecular profiling to generate crucial information on mutations and transcriptional programs found in KRAS wild-type pancreatic cancer that provide additional opportunities for therapeutic intervention in this cancer type that has a low survival rate and few treatment options," said Philip A. Philip, M.D., Ph.D., FRCP. (carislifesciences.com)
NLRP1 senses pathogen-associated molecular patterns (PAMPs) mainly derived from infection, and danger-associated molecular patterns (DAMPs) derived from damaged or dying cells ( 5 ). (frontiersin.org)
T]he FunSeq tool assigns a molecular functional impact score to a mutation based on various features," the authors explained, such as "inter-species conservation, gain or break of transcription factor motifs, disruption of known enhancer-gene interactions, and centrality in the gene regulatory or protein-interaction network. (genomeweb.com)

Sequence alterations are abundant in cancer genomes but the proportion of fragments in cell-free DNA (cfDNA) that harbor tumor-specific (somatic) mutations is often low 8 , 9 , making it difficult to detect bona fide variants amidst background noise from sequence changes introduced in library construction and sequencing. (nature.com)
Here, we considered whether identifying somatic mutations genome-wide could enable the detection of an increased number of circulating tumor DNA (ctDNA) alterations and increase the detection of early stage disease. (nature.com)
In principle, if mutations could be identified in cfDNA without knowledge of alterations in the tumor, then they could be useful for early cancer detection. (nature.com)
We sequenced the coding regions surrounding YXXM motifs of IRS1 using tumor samples of 42 NSCLC patients and 40 matching controls and found heterozygote p.S668T mutation in nine of 42 samples and four of nine also had the p.D674H mutation. (scielo.br)
No similar mutations were present in 1,000 persons without Wilms tumor. (oncologynurseadvisor.com)
Interestingly, mutations of another gene in the complex, CDC73, have previously been shown to cause cancer, particularly of the parathyroid gland, but also occasionally Wilms tumor. (oncologynurseadvisor.com)
SWI/SNF‑related, matrix‑associated, actin‑dependent regulator of chromatin, subfamily a, member 4 (SMARCA4)‑deficient non‑small cell lung cancer (dNSCLC) is a rare malignant tumor that originates in the lungs. (spandidos-publications.com)
If these T cells also had the mutation in the TSC2 gene, the T cells could be more active against the tumor by multiplying, but could also persist longer, enhancing the T cells' effectiveness to kill cancer. (medicalxpress.com)
After testing our modified T cells, we found they were better at stopping tumor growth , proliferated more inside the tumor and didn't get tired out as easily," Kass says. (medicalxpress.com)
The therascreen KRAS RGQ (Rotor-Gene Q) PCR (polymerase chain reaction) Kit tests for 7 mutations in codons 12 or 13 of the KRAS gene on formalin-fixed, paraffin-embedded tissue from the primary tumor or a metastasis. (medscape.com)
PCR amplification and DNA sequence analysis or allele-specific PCR for BRAF V600E mutation status are performed on formalin-fixed, paraffin-embedded tissue from the primary tumor or a metastasis. (medscape.com)
Their findings, documented in a paper in Cell on Thursday , indicated that passenger mutations broadly line up with broader tumor signatures and tumor sub-clone features, potentially adding up to influence cancer features in complex ways. (genomeweb.com)
Building on recent studies suggesting that passenger mutations may "weakly affect tumor cell fitness by promoting or inhibiting tumor growth," the authors used a quantitative sequencing strategy known as FunSeq2 to score the predicted functional effects of somatic mutations present in 2,548 PCAWG tumor samples. (genomeweb.com)
They also explored potential passenger mutation interactions with transcription factor binding sites and other regulatory features in the genome and looked at the relationship between proposed passenger mutations and tumor features overall - from the apparent mutational processes at play to the mutation patterns in tumor sub-clones. (genomeweb.com)
Background: Tumor cells become addicted to both activated oncogenes and to proliferative and pro-survival signals provided by the abnormal tumor microenvironment. (elsevierpure.com)
Although numerous soluble factors have been identified that shape the crosstalk between tumor cells and stroma, it has not been established how oncogenic mutations in the tumor cells alter their interaction with normal cells in the tumor microenvironment. (elsevierpure.com)
In turn, macrophages enhanced Wnt signaling, proliferation and survival in both HCT116 and Hke-3 cells, demonstrating that signaling by oncogenic kRas in tumor cells does not impact their interaction with macrophages. (elsevierpure.com)
Finally, we demonstrated that HCT116 cells expressing dominant negative TCF4 (dnTCF4) or HCT116 cells with silenced Snail failed to stimulate IL1β production in macrophages, demonstrating that tumor cells activate macrophages via a Wnt-dependent factor. (elsevierpure.com)
Significance: Our data demonstrate that oncogenic β-catenin mutations in tumor cells, and subsequent activation of Wnt signaling, not only trigger cell-intrinsic alterations, but also have a significant impact on the crosstalk of tumor cells with the tumor associated macrophages. (elsevierpure.com)

Cancer is due to somatic mutations in the cells that are cancerous. (physicsforums.com)
Published in Nature, the research found that the mutations seen in healthy B cells were largely similar to those seen in cancerous B-cells, suggesting that the development of cancer arises from the same mutational processes. (york.ac.uk)
Just a handful of mutations -- between one and ten -- are required for the cancerous cells to emerge. (zmescience.com)
If you'd carry out a comparison between healthy and cancerous tissues, you'd see thousands of differences (mutations). (zmescience.com)
And it seems that of the thousands of mutations in a cancer genome, only a small handful are responsible for dictating the way the cell behaves, what makes it cancerous. (zmescience.com)

Ultimately, they found that ultraviolet (UV) radiation, possibly linked to sunlight exposure prior to harvesting the cells, was causing significant levels of DNA damage to skin-derived hiPSCs-sometimes inducing tens of thousands of mutations. (the-scientist.com)

We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were associated with replication timing and other chromatin features. (nature.com)
This approach lays the groundwork for non-invasive cancer detection using genome-wide mutation features that may facilitate cancer screening and monitoring. (nature.com)
Pioneering single-cell sequencing technology sheds light on risk of mitochondrial genome editing and hidden mitochondrial mutations in human oocytes and synthetic embryos. (edu.sa)
A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation. (edu.sa)
In another experiment using the new technology, iMiGseq revealed the potential risks of unexpected large increases in the frequency of off-target mutations, known as heteroplasmy, in a mitochondrial genome editing method called mitoTALEN - a genome editing tool that cuts a specific sequence in mitochondrial DNA. (edu.sa)
The VOC differ from the original Wuhan virus as they have mutations across the genome. (who.int)
Mutations in other regions of the genome may also be informative for known VOI/VOC detection. (who.int)
Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)

But "it's not like you're a bad scientist if your cells acquire mutations," says Loring. (the-scientist.com)

Deeper understanding of the pathobiology of non-small cell lung cancer (NSCLC) has led to the development of small molecules that target genetic mutations known to play critical roles in the progression to metastatic disease. (medscape.com)
An evaluation of 561 patients with metastatic CRC reported patients with KRAS mutations had a poor response to first-line standard chemotherapy. (medscape.com)
A combination of encorafenib , cetuximab, and binimetinib has been shown to increase overall survival compared to standard therapy in patients with metastatic colorectal cancer with the BRAF V600E mutation. (medscape.com)

Inaccurate DNA replication can occur during cellular division, when the cell makes a copy of its DNA. (maplesoft.com)
When a mutation occurs, effects are seen at the DNA, protein, cellular and whole organism level. (maplesoft.com)
Mutations may also cause cells to lose specific functions, or alter essential cellular functions. (maplesoft.com)
Even if that small mistake has no discernible effect on your life, it marks your personal cellular history like a trail of breadcrumbs, showing how one cell from the earliest periods of your development influenced the fate of the rest of your body. (alleninstitute.org)
Since cancer is such a complex disease which evolves and changes over time, having a way to pinpoint the specific drivers of cellular mutations can make a massive difference in the way we both treat and prevent cancer. (zmescience.com)
Chirag H. Patel et al, TSC2 S1365A mutation potently regulates CD8+T cell function and differentiation improving adoptive cellular cancer therapy, JCI-Insight (2023). (medicalxpress.com)
BCR-ABL oncogene encodes a BCR-ABL tyrosine kinase (TK), which triggers different downstream targets including c-Myc, STAT5 and CrkL, which participated in the control of cell differentiation, proliferation, migration and other cellular behaviors [ 3 - 5 ]. (jcancer.org)
Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death, Colleen E. Clancy and Yoram Rudy, 2001, Cardiovascular Research , 50, 301-313. (cellml.org)
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)
Mitochondria, the "powerhouses" of cells, play a crucial role in cellular communication and metabolism. (edu.sa)

In next phases of the work, they plan to refine their techniques to find more rare mutations that represent later stages of someone's developmental history. (alleninstitute.org)
We were able to detect rare mutations with frequencies far below the traditional detection threshold of one percent," says Mo Li. (edu.sa)

After you're diagnosed with NSCLC, you may get tested to see which mutation you have. (webmd.com)
You're more likely to have a KRAS mutation if you have the adenocarcinoma type of NSCLC. (webmd.com)
ALK mutations often show up in people who never or rarely smoked and have the adenocarcinoma type of NSCLC. (webmd.com)
[ 9 , 10 ] KRAS G12C accounts for approximately 50% of KRAS mutations in NSCLC, and approximately 14% of patients with NSCLC have a KRAS G12C mutation. (medscape.com)
Lung cancer is divided into two major groups: non small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). (scielo.br)
The study found that KRAS mutations are relatively common in NSCLC and that differences between KRAS mutation subtypes warrant further investigation in how they could guide treatment decisions, including the use of targeted and immuno-oncology drugs. (carislifesciences.com)
Across 17,113 NSCLC patients, KRAS mutations were present in 27% of samples (n=4,706), with KRAS G12C being the most common variant and present in 40% of samples that exhibited a mutation. (carislifesciences.com)
The poster is titled, "Characterization of KRAS mutations (mt) in non-small cell lung cancer (NSCLC). (carislifesciences.com)

We demonstrate that intracellular clonal expansion of somatic point mutations is a common event in normal human tissues. (nih.gov)

RAS pathway mutations were associated with an increased risk of relapse with reduced-intensity conditioning, and JAK2 mutations were associated with an increased risk of nonrelapse mortality. (ascopost.com)

There are new drugs, called targeted therapy, that zero in on the specific mutations you have. (webmd.com)
However, variants with specific mutations that affect the way the virus behaves are now considered either Variants of Interest (VOI) or Variants of Concern (VOC) with respect to public health implications (1). (who.int)

Lastly, we saw that exposure may cause mitochondrial dysfunction, which may also result in additional mutations. (boingboing.net)
Sixty one of 104 expected tissue mutations and 6 additional mutations not present in the tissue were detected in cfDNA. (oncotarget.com)

In the following example, you will examine four common types of mutations: substitution, insertion, deletion and frame shift. (maplesoft.com)
Is the Subject Area "Deletion mutation" applicable to this article? (plos.org)

However, instances occur where the cell does not repair the DNA correctly, which again results in a mutation. (maplesoft.com)
This type of mutation may occur during the chromosome-crossover part of meiosis, which often results in a serious genetic disease. (maplesoft.com)
Further analysis revealed that mutations, especially the BCOR mutations in the blood-derived lines, can occur after reprogramming, meaning they didn't originate from the human donors but rather arose as the cells replicated in the lab, likely through selective pressures the cells experience while growing and dividing in a dish. (the-scientist.com)
Stem cells derived from adult somatic cells "will carry the mutational history of their past, as well as of any new mutations that occur when you are reprogramming them or growing them in culture," Nik-Zainal says. (the-scientist.com)
We recognized in the course of that epilepsy work that these mutations occur ubiquitously," said Walsh, who is also a neurologist and geneticist at Boston Children's Hospital and Harvard Medical School and an investigator of the Howard Hughes Medical Institute. (alleninstitute.org)
In order for a mutation to be inherited, it must occur in the genetic material of a sex cell,' O'Neil says. (scienceclarified.com)
Mutations occur when DNA replicates itself. (scienceclarified.com)
These mutations occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. (medlineplus.gov)

[ 5 ] By contrast, the exon 20 T790M mutation is associated with acquired resistance to TKI therapy. (medscape.com)

We didn't find any overt evidence that these mutations automatically would be harmful or pathogenic," he said. (sciencedaily.com)
The previously reported pathogenic mutation in NLRP1 in humans, and the missense mutation we inserted into the BALB/c mice in this study. (frontiersin.org)

ABSTRACT: BACKGROUND: A variety of mutations in HERG, the major subunit of the rapidly activating component of the cardiac delayed rectifier I(Kr), have been found to underlie the congenital Long-QT syndrome, LQT2. (cellml.org)

The research gives more in-depth insight into the mutational landscape of healthy lymphocytes and the processes that cause these mutations, which adds to the current understanding of ageing. (york.ac.uk)
The study involved targeted mutational analysis of samples obtained before stem cell transplant from 1,514 MDS patients enrolled at the Center for International Blood and Marrow Transplant Research Repository between 2005 and 2014. (ascopost.com)

Rearranged during transfection (RET), kinase alterations, which include fusions and activating point mutation, lead to overactive RET signaling and uncontrolled cell growth. (medscape.com)

Hereditary mutations include cystic fibrosis , hemophilia , and sickle cell disease . (kidshealth.org)

It's a call that's finally, increasingly being communicated: to analyze the cells you're going to use by genomic analysis. (the-scientist.com)
Sequencing normal colorectal cells provides quantitative insights into the genomic and clonal evolution of cancer. (cam.ac.uk)
Here, we show that these mutations , clustered in ENL's structured acetyl- reading YEATS domain, trigger aberrant condensates at native genomic targets through multivalent homotypic and heterotypic interactions. (bvsalud.org)
BRCA1 and BRCA2 are believed to take part in a common pathway in maintenance of genomic integrity in cells. (lu.se)

Wnt signaling pathway activation via mutation of genetic components, commonly adenomatous polyposis coli (APC), has a major role in colorectal cancer (CRC). (umn.edu)

In a series of follow-up analyses, the investigators used machine learning and other methods to delve into the relative contributions of various passenger mutations to tumorigenesis. (genomeweb.com)
Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A. (lu.se)

A heterozygous SOX17 mutation (L194P) was also found in a cell line. (umn.edu)
HCT116 cells are heterozygous for β-catenin (HCT116 WT/MT ), harboring one wild type (WT) and one mutant (MT) allele, but isogenic lines that carry only the WT (HCT116 WT ) or MT β-catenin allele (HCT116 MT ) have been generated. (elsevierpure.com)
A recent work identified 15 novel and 4 previously published heterozygous mutations in PAX3 and MITF . (medscape.com)
One is heterozygous for a novel nonsense mutation, S209X, and the other is heterozygous for a previously reported mutation in the European population, R223X. (medscape.com)
A novel PAX3 heterozygous mutation of c.372-373delGA (p.N125fs) was found that gave rise to a frameshift and truncation of the PAX3 protein. (medscape.com)

Further studies were performed to determine whether DCNPA and its major metabolite, 2,4-dichloro-6-aminophenol (DCAP), can induce reverse mutations in Salmonella, gene mutations at the HPRT locus, sister chromatid exchanges (SCEs) and micronuclei (MN) in V79 cells. (cdc.gov)
5 of the 6 (83%) informative BRCA2 mutation tumours showed Al at the BRCA1 locus. (lu.se)
In conclusion, the high prevalence of Al at BRCA1 in BRCA2 mutation tumours and vice versa suggests that somatic events occurring at the other breast cancer susceptibility gene locus may be selected in the cancer development. (lu.se)

These hereditary (or inherited) mutations are in almost every cell of the person's body throughout their life. (kidshealth.org)

Mol Cell;82(21): 4080-4098.e12, 2022 Nov 03. (bvsalud.org)

They found that the number and patterns of mutations in B-cells and T-cells varied extensively from cell to cell. (york.ac.uk)
Exposure to the UV light also caused mitochondrial and DNA damage in the remaining cells and resulted in mutations with patterns that can be observed in skin cancer in humans. (boingboing.net)

Most components have not been assessed for mutation in sporadic CRC. (umn.edu)
These are called sporadic, spontaneous, or new mutations. (kidshealth.org)

WS1 may be inherited in an autosomal dominant pattern or may be the result of a de novo mutation. (medscape.com)

Additionally, mutations often have either a negative or positive effect on the whole organism. (maplesoft.com)
Additionally, our data suggest that acquisition of aleurone cell fate does not solely rely upon signalling from the maternal surrounding tissue to the periphery of the endosperm, as previously thought, but that other factor(s) present within the endosperm are involved. (biologists.com)

Extensive efforts have been made to detect low-frequency mutations in cfDNA. (nature.com)
In this study, we evaluated in parallel ultra-deep NGS with MassARRAY and allele-specific droplet digital PCR (ddPCR) for cfDNA genotyping and correlated cfDNA yield and mutation status with overall survival (OS) of patients. (oncotarget.com)
0.04) was significantly longer than in patients with higher cfDNA yield and positive for mutations. (oncotarget.com)
The Galleri test uses cell-free DNA (cfDNA) and machine learning to detect a common cancer signal across more than 50 cancer types as well as to predict cancer signal origin (CSO). (medscape.com)

We found that JOA at lower concentration significantly inhibited the proliferation of CML cells expressing mutant BCR-ABL (T315I mutation included) and wild-type BCR-ABL, which was due to that JOA induced the cell differentiation and the cell cycle arrest at G0/G1 phase. (jcancer.org)
APC mutation was significantly increased in the MSI- subgroup (p = 0.02, Fisher's exact test). (umn.edu)

Using single-cell sequence analysis, we discovered that a high proportion of cells in tissues as diverse as buccal epithelium and heart muscle contain high proportions of clonal mutant mtDNA expanded from single initial mutant mtDNA molecules. (nih.gov)
Significant qualitative differences observed between the spectra of clonally expanded mutations in proliferating epithelial cells and postmitotic cardiomyocytes suggest, however, that either the processes generating these mutations or mechanisms driving them to homoplasmy are likely to be fundamentally different between the two tissues. (nih.gov)
Further research into how much these mutations and processes vary between tissues is needed to investigate if these offer any avenues for future treatment. (york.ac.uk)
As a consequence, cell fate acquisition and subsequent differentiation of endosperm tissues are affected to varying degrees of severity. (biologists.com)

[ 8 ] Both mutations created stop codons leading to truncation of the PAX3 protein. (medscape.com)

Detection of each mutation depends on the test used, and panel gene sequencing using next-generation sequencing may result in a higher incidence of simultaneous mutations. (medscape.com)
ddPCR and MassARRAY showed 83% and 77% concordance with NGS for mutation detection with 100% and 79% sensitivity, respectively. (oncotarget.com)
A number of tools are available for the detection of mutations that are characteristic of viruses defined as VOI/VOCs. (who.int)

TP53 mutation was associated with poorer overall survival and increased risk of relapse. (ascopost.com)
among patients without TP53 mutations, survival was similar among those with therapy-related MDS vs primary MDS (HR = 1.10, P = .37). (ascopost.com)
PPM1D mutation vs no mutation was not associated with poorer survival in patients with therapy-related MDS without TP53 mutations (HR = 1.26, P = .39). (ascopost.com)

Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive diagnosis of cancer. (nature.com)

While most somatic mutations don't have obvious immediate effects, the gradual accumulation of these cell-to-cell differences over a lifetime adds up. (alleninstitute.org)
The great diversity of life forms that have been identified in the fossil record is evidence that there has been an accumulation of mutations producing a more or less constant supply of both small and large variations upon which natural selection has operated for billions of years,' O'Neil says. (scienceclarified.com)

The landscape of somatic mutation in normal colorectal epithelial cells. (cam.ac.uk)

This finding implies efficient homogenization of mitochondrial genomes within individual cells. (nih.gov)
It is used to cut a mutation that causes mitochondrial encephalomyopathy and stroke-like episodes syndrome in patient-derived induced pluripotent stem cells. (edu.sa)

So when a somatic cell get a mutation on a gene it doesn't use can it have an impact on the cell? (physicsforums.com)
So a mutation on germ cell have more chance of causing harm to the baby than the chance of the same mutation on somatic cell (that doesn't express the mutated gene) to cause harm to a person? (physicsforums.com)
If a mutation occurs in a somatic cell, it will affect only that person in whose body the cell resides. (scienceclarified.com)

How troublesome these mutations could be depends on how well the stem cells are screened to filter out the defects and how they are used therapeutically, Torkamani said. (sciencedaily.com)
It depends on the exact mutation and its location. (physicsforums.com)

[ 6 , 7 ] However, the role of KRAS and BRAF mutations in CRC survival and response to standard chemotherapy regimens remains inconclusive. (medscape.com)
In contrast, the BRAF V600E mutation did not have any impact on the first-line standard chemotherapy response. (medscape.com)

KRAS mutations are also predominantly found in adenocarcinomas and are seen in approximately 25% of cases. (medscape.com)
Not only did T speed up reprogramming, we also found that it increases the total number of reprogrammed cells, which is great because often in reprogramming, not all cells go all the way," says Cheng, who explains that rigorous follow-up tests are required to determine if the reprogrammed cells really behave like pluripotent embryonic stem cells. (hopkinsmedicine.org)
In addition, many of the mutations associated with the Omicron variant are found in areas that are likely bound by neutralizing antibodies, suggesting that the first line of immunological defense against COVID-19 may be compromised. (biorxiv.org)
In a study reported in The New England Journal of Medicine , R. Coleman Lindsley, MD, PhD , of Dana-Farber Cancer Institute, and colleagues found that a number of mutations present in patients with myelodysplastic syndromes (MDS) were associated with poorer clinical outcome after allogeneic hematopoietic stem cell transplantation. (ascopost.com)
Associations with outcomes were analyzed for the 32 mutations found in ≥ 20 patients. (ascopost.com)
No associations of mutations with prolonged survival were found. (ascopost.com)
In six children, from three different families, they found CTR9 mutations that stopped the gene working properly. (oncologynurseadvisor.com)
The scientists also found that the T cells containing the TSC2 mutation could expand in great numbers during the initial immune response, but then could also persist long-term, which differs greatly from other T cells used for therapy. (medicalxpress.com)
However, it found no such correlation for basal cell carcinoma. (medicalnewstoday.com)
Research suggests that basal cell carcinomas grow from immature cells found in the hair follicle. (medicalnewstoday.com)
Somatic mutation was not found in CK1α. (umn.edu)

Our study highlights that increased risk of mutations in iPSCs made from older donors of source cells. (sciencedaily.com)
When we proposed this study, we weren't sure whether it would even be possible to grow iPSCs from the blood of the participants in the Wellderly Study, since others have reported difficulty in making these stem cells from aged patients," Baldwin said. (sciencedaily.com)
Most of the human induced pluripotent stem cells stored at major cell line repositories and used in research harbor thousands of DNA errors, a study finds, highlighting the need for improved quality control measures. (the-scientist.com)
According to study coauthor and Cambridge Biomedical Research Campus medical geneticist Serena Nik-Zainal , the study reveals that the level of quality control involved in such stem cell research may not be up to snuff. (the-scientist.com)
It's a problem, but it's solvable," says Jeanne Loring , a stem cell researcher at the Scripps Research Institute who didn't work on the study. (the-scientist.com)
The present study supports the concept that a sizable fraction of cases of this lymphoma are from activated germinal center or postgerminal center cells. (nih.gov)
A new study traces human development from adults all the way back to embryos when they were just a few cells. (alleninstitute.org)
However, the results of the study were clear: The chronic use of these nail polish drying machines is damaging to human cells. (boingboing.net)
This study examined if the parts of the virus, or epitopes, targeted by the CD8+ T-cell response in thirty individuals who recovered from COVID-19 in 2020 were mutated in the Omicron variant. (biorxiv.org)
A study identified mutations in the CTR9 gene in six children with Wilms tumour. (oncologynurseadvisor.com)
Maximizing the effectiveness of T-cell-based therapies remains a critical challenge," says David Kass, M.D., Abraham and Virginia Weiss Professor of Cardiology at the Johns Hopkins University School of Medicine and senior author of the study. (medicalxpress.com)
For the current study, Kass and his team focused on CD8 + T cells, the circulating immune system "soldiers" responsible for identifying and fighting infections and cancer cells . (medicalxpress.com)
In this study, we isolated three kinds ofÂ desmoidÂ cell with different CTNNB1 status, and compared their characteristics. (dtrf.org)
Study of these mutations offers a powerful way of interrogating key underlying disease mechanisms for all forms of AD [ 2 ]. (nature.com)
CONCLUSIONS: This study demonstrates which mutations can prolong APD sufficiently to generate early afterdepolarizations (EADs), which may trigger life-threatening arrhythmias. (cellml.org)
A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy. (genomeweb.com)

Because the visualization of MTs by immunofluorescence is technically difficult in intact hyphae of A. nidulans, we developed a method for removing the cell wall under conditions that do not perturb cell physiology, as evidenced by the fact that the resulting protoplasts undergo nuclear division at a normal rate and that cell cycle mutant phenotypes are expressed at restrictive temperature. (rupress.org)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

In fact, stem cells from those extremely elderly participants had mutation numbers more comparable to iPSCs made from donors one-half to two-thirds younger. (sciencedaily.com)
The team sequenced genomes from over 700 normal immune cells across seven donors, with ages from 0 to 81 years. (york.ac.uk)

These changes, called "mutations," cause your lung cells to grow out of control. (webmd.com)
In lung cancer, mutations usually aren't inherited. (webmd.com)
In a small portion of lung cancer cases, these acquired gene mutations are just random things that happen. (webmd.com)
The cancer begins in squamous cells, the flat cells that line the inside of the lung airways. (webmd.com)
Our results suggest that these novel mutations play a role in the phenotype of lung cancer. (scielo.br)
2004) Akt phosphorylation and gefitinib efficacy in patients with advanced non-small-cell lung cancer. (scielo.br)
Metz H, Busch SE, Hanke ML, Kargl J, Kim KH and Houghton M (2014) Insulin receptor substrate-1 regulates immune cell content in lung adenocarcinoma. (scielo.br)
SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 (SMARCA4)- deficient non-small cell lung cancer (SMARCA4-dNSCLC) is an uncommon yet notable malignancy originating within the lung. (spandidos-publications.com)

Insertions are mutations where extra base pairs are inserted into a new place in the DNA. (maplesoft.com)

They can be as small as a point mutation, which is a change in a single DNA condon [three base pairs in a DNA sequence that specify the instructions for making an amino acid] or as large as a major structural modification in chromosomes and even missing or extra chromosomes. (scienceclarified.com)
Next-generation sequencing has been used to sequence mtDNA and implicated heteroplasmic mutations as significant contributors to metabolic disease. (edu.sa)

As it is in much of life, the aging process isn't kind to an important type of stem cell that has great therapeutic promise. (sciencedaily.com)
However, many of these human induced pluripotent stem cell (hiPSC) lines banked in repositories or developed in labs likely harbor thousands of undetected mutations, casting doubt on how generalizable the findings made with them can be, according to research published yesterday (August 11) in Nature Genetics . (the-scientist.com)
Publishing online in Stem Cells on May 29, the team describes a faster and more efficient method of reprogramming cells that might speed the development of stem cell therapies. (hopkinsmedicine.org)
Without large T, cells form embryonic stem cell-like clusters in three to four weeks. (hopkinsmedicine.org)
Using five control induced pluripotent stem cell (iPSC) lines and seven iPSC lines generated from fAD patients, we investigated the effects of mutations on the Aβ secretome in human neurons generated in 2D and 3D. (nature.com)
Ratios act as internal normalisers for relative Aβ peptide abundance in conditioned media from stem cell models of AD. (nature.com)

Squamous cells form the outer layer of skin. (medicalnewstoday.com)
Basal cells are round cells that sit just beneath squamous cells. (medicalnewstoday.com)
Basal cell carcinoma is one of the two most common types of skin cancer, along with squamous cell carcinoma. (medicalnewstoday.com)
It reports that around 3.3 million people in the U.S. develop basal cell carcinoma, squamous cell carcinoma, or both each year, but only about 2,000 cases are fatal. (medicalnewstoday.com)
For example, a 2018 systematic review and meta-analysis suggests that people with squamous cell carcinoma are more likely to die of another cause than members of the general population. (medicalnewstoday.com)

Hotspot mutations in the structured ENL YEATS domain link aberrant transcriptional condensates and cancer. (bvsalud.org)

This replication mistake will lead to a mutation, which may be the result of an unusual chemical environment or external radiation, causing the DNA to break down. (maplesoft.com)
Things outside your body, like breathing in tobacco smoke, lead to gene mutations. (webmd.com)
Dr. Joshua LaBaer of Arizona State University's BioDesign Institute and his partner are trying to figure out what is causing those mutations and that would lead to better treatments. (azpbs.org)
We also saw that some of the DNA damage does not get repaired over time, and it does lead to mutations after every exposure with a UV-nail polish dryer. (boingboing.net)
JOA displayed the activity of inhibiting the BCR-ABL and promoted differentiation of not only imatinib -sensitive but also imatinib -resistant cells with BCR-ABL mutation, which could become a potent lead compound to overcome the imatinib -resistant induced by inhibitors of BCR-ABL tyrosine kinase in CML therapy. (jcancer.org)
Whereas, distinct presenilin 1 ( PSEN1 ) mutations lead to either (2) reduced γ-secretase activity, (3) altered protein stability or (4) reduced PSEN1 maturation, all culminating in reduced γ-secretase carboxypeptidase-like activity. (nature.com)
Some mutations can lead to genetic disorders or illnesses. (kidshealth.org)
Damage from the sun's ultraviolet radiation or exposure to some types of chemicals can lead to new mutations. (kidshealth.org)
Mutations in the LMNA gene lead to the production of abnormal lamins. (medlineplus.gov)
Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)

Using iPSCs for treatment has already been initiated in Japan in a woman with age-related macular degeneration," said paper co-author and STSI Director Eric Topol, M.D. "Accordingly, it's vital that we fully understand the effects of aging on these cells being cultivated to treat patients in the future. (sciencedaily.com)
We also analysed matched CSF, post-mortem brain tissue, and iPSCs from the same participant with the APP V717I mutation. (nature.com)

How do gene mutations cause cancer? (webmd.com)
Here's how some common mutations affect the way your cancer grows, and who's likely to get them. (webmd.com)
Meanwhile, 27 percent of the blood-derived hiPSCs stored with Insignia and 18 percent of blood hiPSCs in HipSci contained multiple mutations in the BCOR gene, which is implicated in several types of cancer. (the-scientist.com)
Engineered white blood cells may eliminate cancer? (physicsforums.com)
The aggressive form of cancer is caused by a mutation in cells. (azpbs.org)
Understanding more about the factors that cause these mutations to develop into cancer in some cells and not others could help shed light on the origins of the disease. (york.ac.uk)
While cancer can develop at any point in a person's life, age can be a risk factor in some types of cancer as over time these cells acquire more genetic mutations, with some of these mutations giving a higher risk of developing cancer. (york.ac.uk)
Understanding these processes in greater detail may be able to help shed light on why some of these cells go on to develop into cancer, while others don't. (york.ac.uk)
We've known about the genetic basis of cancer for many decades now, but how many mutations are responsible has been incredibly hotly debated. (zmescience.com)
Moreover, we can now do a simple blood test to see which children in the family are at risk of cancer and may benefit from cancer screening, and which have not inherited the mutation and so are not at increased risk of cancer. (oncologynurseadvisor.com)
Using laboratory-grown cells from humans and genetically engineered mice, scientists at Johns Hopkins Medicine say they have evidence that modifying a specific protein in immune white blood cells known as CD8 + T cells can make the cells more robust, potentially opening the door for better use of people's own immune system T cells to fight cancer. (medicalxpress.com)
We've identified a powerful way to boost T cell function, offering a promising avenue for improving cancer immunotherapy and potentially treating a wide range of infectious and other diseases. (medicalxpress.com)
This discovery, Kass says, raises the possibility of enhancing a therapy known as CAR-T, in which T cells are genetically engineered to better recognize a particular cancer. (medicalxpress.com)
Basal cell carcinoma is a skin cancer that affects the basal cells. (medicalnewstoday.com)
Basal cell carcinoma is the most common type of skin cancer. (medicalnewstoday.com)
Basal cell carcinoma, or basal cell skin cancer , is a less aggressive cancer than melanoma. (medicalnewstoday.com)
This means that there are multiple cancer cells, but they do not penetrate the dermis, which is the next layer of skin after the epidermis. (medicalnewstoday.com)
Like all cancer, basal cell carcinoma happens when cells grow rapidly and out of control. (medicalnewstoday.com)
In human cancer , a series of mutations in the histone acetylation reader ENL create gain-of-function mutants with increased transcriptional activation ability . (bvsalud.org)

Anatomy11

Organisms12

Diseases23

Chemicals and Drugs74

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Psychiatry and Psychology2

Phenomena and Processes111

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care6

Genes25

Epidermal growth f5

Gene mutation6

Tumors8

Researchers24

Driver mutations4

EGFR16

Cancers10

Germline10

MtDNA mutations5

Molecular10

Tumor19

Cancerous5

Thousands of mutations1

Genome8

Acquire mutations1

Metastatic3

Cellular10

Rare mutations2

NSCLC8

Point mutations1

Pathway mutations1

Specific mutations2

Additional mutations2

Deletion2

Occur8

Exon1

Pathogenic2

Abstract1

Mutational2

Alterations1

Sickle Cell Di1

Genomic4

Colorectal cancer1

Analyses2

Heterozygous5

Locus3

Hereditary1

20221

Patterns2

Sporadic2

Novo1

Additionally2

CfDNA4

Significantly2

Tissues4

Codons1

Detection3

TP533

Tumorigenesis1

Accumulation2

Epithelial1

Mitochondrial2

Somatic cell3

Depends2

BRAF2

Found11

Study16

Phenotypes2

Donors2

Lung8

Insertions1

Sequence2

Stem cell6

Squamous5

Hotspot1

Lead10

IPSCs2

Cancer19