Mutations and alterations. Medical search. Frequent questions

PAFAH1B1 gene mutations that occur in all of the body's cells (germline mutations) usually cause ILS. (medlineplus.gov)
Germline mutations in the NOTCH1 , NOTCH2 and NOTCH3 genes cause Adams-Oliver syndrome, Alagille syndrome and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, respectively ( 4 ), and DLL4-NOTCH3 signaling in human vascular organoids induces basement membrane thickening and drives vasculopathy in the diabetic microenvironment ( 5 ). (spandidos-publications.com)
The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
Germline mutations in the p53 tumor suppressor gene are associated with the Li-Fraumeni syndrome, characterized by childhood sarcoma, leukemia and early onset breast cancer and has occasionally been found also in familial breast-ovarian cancer. (lu.se)

Mutations in the JAK2 , MPL , and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. (medlineplus.gov)
Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition. (medlineplus.gov)
Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. (medlineplus.gov)
We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. (nih.gov)
While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes. (nih.gov)
To characterize a ramR gene mutation found in the MDR isolate, its WT and mutant genes were cloned and expressed in the MDR isolate. (elsevierpure.com)
The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11 . (medlineplus.gov)
Several molecular mechanisms with antifungal agents have been reported for C. albicans where insertions, deletions, and point mutations in genes codifying target proteins are frequently related to the antifungal drug resistance. (intechopen.com)
Dr. Revollo is developing NGS methods capable of directly and efficiently identifying somatic mutations in the whole genome - in any tissue, and in any species, or any established cell culture - without the need for selecting and expanding cells that have mutations in only a few specific reporter genes. (fda.gov)
Women diagnosed with early stage, non-invasive breast cancer who carry the same mutations in two inherited breast/ovarian cancer genes as women diagnosed with invasive breast cancer, may benefit from high risk treatment, Yale researchers report in the February 23 issue of Journal of the American Medical Association. (sciencedaily.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
By contrast, somatic alterations in the genes encoding Notch signaling components drive various types of human cancer, such as breast cancer, small-cell lung cancer (SCLC) and T-cell acute lymphoblastic leukemia (T-ALL) ( 6 - 9 ). (spandidos-publications.com)
Twenty-eight ATC harbored a mutation in at least one of the studied genes: TP53 (18/30), NF1 (11/30), ALK (6/30), NRAS (4/30), ATRX (3/30), BRAF (2/30), HRAS (2/30), KRAS (1/30). (uni-koeln.de)
In 17/30 ATC (54 %) mutations were found in two or more genes. (uni-koeln.de)
These sequencing data from 30 ATC samples demonstrate the accumulation of genetic alterations in ATC because in 90 % of samples mutations were already found in the investigated nine genes alone. (uni-koeln.de)
Mutations were found with high prevalence in established tumor suppressor and oncogenes in ATC, such as TP53 and H/K/NRAS, but also, although less frequent, in genes that may harbor the potential for targeted treatment in a subset of ATC patients, such as ALK and NF1. (uni-koeln.de)
Resistance to quinolones occurs through chromosomal mutations in the genes encoding these enzymes and by porin and efflux mutations. (cdc.gov)
METHODS: Germline assessment of ≥76 cancer predisposition genes was performed in patients with EC undergoing tumor-normal Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets sequencing from January 1, 2015 through June 30, 2021. (bvsalud.org)
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3 , COL4A4 , and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands. (msdmanuals.com)
Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy. (cdc.gov)
Human progeroid syndromes are linked with mutations in single genes accelerating some, but not all, features of normal aging. (medscape.com)

The authors show that cells with MAPK, PI3K and WNT pathway activation are vulnerable to mutations that lead to further activation, suggesting a new strategy for treating tumors driven by these oncogenic pathways. (nature.com)
Research into the oncogenic mechanisms of GISTs has found that these tumors frequently contain activating gene mutations in either platelet-derived growth factor receptor A ( PDGFRA ) or a receptor tyrosine protein associated with a mast cell growth factor receptor encoded by the KIT gene. (biomedcentral.com)
Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (biomedcentral.com)
We report an overall mutation frequency of 87.5%, with 76.25% of the tumors showing alterations in KIT and 11.25% in PDGFRA . (biomedcentral.com)
Whereas oncogenic KIT or PDGFRA mutations seem vital to promote the neoplastic transformation, additional somatic alterations are presumably necessary for the biological and clinical progression of these tumors and may explain the different responses to targeted therapy seen in these patients. (biomedcentral.com)
Smoking-related tumors featured TP53 mutations, CDKN2A inactivation, and frequent copy number alterations. (cancer.gov)
Continuing the trend from the 2016 revised 4th edition of the WHO Classification of Tumors of the Central Nervous System (CNS), the recent 2021 5th edition incorporates more molecular data into the classification and grading of many entities and introduces some new entities based on molecular alterations. (cap.org)
NF2 mutations account for a large proportion within pRCC and unclassified tumors, and we are testing the specific agents shown to be effective against tumors with germline NF2 mutations. (kidneycancer.org)

I found no mutations or copy number alterations in about %30 of my tumor samples (stage one of tumor). (biostars.org)
Subtypes of HPV-positive head and neck cancers are associated with HPV characteristics, copy number alterations, PIK3CA mutation, and pathway signatures. (who.int)

13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
Point mutations in the coding region are numbered according to the affected amino acids. (lu.se)

Comprehensive molecular profiling has revealed a diverse landscape of genomic alterations as oncogenic drivers in CCA. (nih.gov)
These assays vary regarding acceptable source material (tumor tissue or peripheral whole blood), genetic source for library construction (DNA or RNA), target selection technology, gene panel size, and type of detectable genomic alterations. (nih.gov)
Recently the number of RCC subtypes have expanded to further subdivide both papillary variants with distinct morphology, or the presence of specific genomic alterations. (kidneycancer.org)

They genetically tested 369 women with DCIS for alterations in BRCA1 and BRCA2. (sciencedaily.com)
We found that 0.8 percent of these women had disease-associated mutations in BRCA1, while 2.4 percent had such mutations in BRCA2," said Claus. (sciencedaily.com)
The family manifested no linkage to the p53 gene (a two-point LOD-score of -0.41), and has previously also been excluded for linkage to the BRCA1 and BRCA2 loci, as well as being carrier of a BRCA1 germline mutation. (lu.se)

TP53 mutations, CDKN2A/B loss, and KRAS mutations are the most common genetic alterations in CCA. (nih.gov)

In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell usually causes a more severe condition called isolated lissencephaly sequence (ILS). (medlineplus.gov)

Expression, gene mutation and amplification, methylation, and copy number alteration (CNA) of POGLUT2 were evaluated using The Cancer Genome Atlas (TCGA), Cancer Cell Line Encyclopedia (CCLE), and Genotype-Tissue Expression (GTEx) databases. (frontiersin.org)
Moreover, increased gene mutation and amplification, methylation, and CNA of POGLUT2 were found in several types of cancers. (frontiersin.org)
To profile genomic and epigenomic of a naïve Chinese non-small cell lung cancer (NSCLC) cohort and investigate the association between tumor mutation burden (TMB) and DNA methylation (DNAm) to explore potential alternative/complimentary biomarkers for NSCLC immunotherapies. (biomedcentral.com)

Furthermore, the relationship between the pattern of KIT and PDGFRA oncogenic mutations and that of cytogenetic changes has not been systematically studied, precluding a full understanding of the genetic pathways involved in GIST development. (biomedcentral.com)

If mutation causes a stop codon it is marked with X and the number of the codon with the newly introduced stop codon. (lu.se)
More than 70 disease-causing mutations have been described, the majority being stop codon mutations, splice mutations, or small ins/del-producing truncations of the protein and/or non-sense-mediated decay of mutant mRNA. (medscape.com)

This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. (medlineplus.gov)
Most males with subcortical band heterotopia have a DCX gene mutation that is not inherited and is present in only some of the body's cells, a situation known as mosaicism. (medlineplus.gov)
When subcortical band heterotopia is caused by a PAFAH1B1 gene mutation, it is generally not inherited but arises from a mutation in the body's cells that occurs after conception, which leads to mosaicism. (medlineplus.gov)

Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. (medlineplus.gov)
Extensive genomic sequencing efforts in recent years have provided detailed profiles of the somatic gene mutations that occur in a wide range of human cancers. (atcc.org)
Somatic testing is performed to identify random mutations that occur post-conception in individual cells and to date, is most frequently used for cancer genetic testing. (cdc.gov)

Emergence of LSC is dependent on individual or combined genetic mutations that broadly determine the cellular affiliation of the leukemia, and permit or impose ectopic self-renewal and a restricted differentiation potential into what constitutes the proliferative bulk of the leukemia ( 5 , 6 ). (frontiersin.org)
Genetic mutations in 1625 diverse women with endometrial cancer were studied and the lowest rates of mutations and genetic counseling were found in Black and African ancestry women. (bvsalud.org)

In this context, we summarize common epigenetic alterations in AML that are relevant for understanding lncRNA potential contribution to the disease. (frontiersin.org)
e.g. inflammation, genotoxicity, and This chapter focuses on issues as- ellers, growth factors, growth factor epigenetic alterations) and can have sociated with the understanding and receptors, signal transducers, and both genetic and epigenetic origins. (who.int)

GISTs are characterized by mutations in a receptor tyrosine protein (encoded by the KIT gene) associated with a mast cell growth factor receptor or in the gene encoding platelet-derived growth factor receptor A ( PDGFRA ). (biomedcentral.com)
In addition to validating the gene copy number variations and mutations within cell lines, ATCC also tests the related gene expression by real-time PCR and related protein expression by Western blot. (atcc.org)
To determine whether a mutation in the RP1-like protein 1 ( RP1L1 ) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD. (molvis.org)
Four out of five computational assessment tools predicted that this mutation is damaging to the protein function. (molvis.org)
Mutations in the p53 tumour suppressor protein are among the most frequent genetic alterations found in cancer. (europa.eu)
Using the somatic mutation rate and eIF4B protein level, we identified three groups with different clinical outcomes, including a group with extremely good prognosis. (lu.se)

Mutations in CDH1 and in the PI3K pathway are the most frequent molecular alterations in ILC. (lu.se)

ALK mutations were detected in 20 % of ATC and were more frequent than RAS or BRAF mutations. (uni-koeln.de)

In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (biomedcentral.com)
Insertions are marked with sign "@" and deletions with "#" in front of the mutation site. (lu.se)

This includes actionable alterations, such as isocitrate dehydrogenase 1 (IDH1) mutations and a large variety of FGFR2 rearrangements, which are found in up to 29% and ∼10% of patients with iCCA, respectively, but are rare in eCCA. (nih.gov)
However, favorable phase III results for IDH1-targeted therapy with ivosidenib in iCCA have been published, and numerous other alterations are actionable by targeted therapies approved in other indications. (nih.gov)
Given the changes discussed above, initial diagnostic workup of an adult hemispheric infiltrating glioma might start with immunohistochemistry for IDH1 p.R132H (accounting for ~ 90% of IDH1 / IDH2 mutations in this setting), ATRX, p53, and Ki67 (particularly in the setting of lower-grade histology). (cap.org)

Secondary KIT mutations were additionally found in two of four samples obtained after imatinib treatment. (biomedcentral.com)
This characterization information and data can be found in the ATCC Genetic Alteration Panel brochure on our website. (atcc.org)
10-12 However, in the remaining "classical" LFS families, and in most LFS-L families, no alterations in p53 have been found. (bmj.com)
Most mutations found are of missense type and located in the central region of the gene (exons 5 to 8). (lu.se)
[ 7 ] Seventy of the alterations were found in males with late-onset ornithine transcarbamylase deficiency. (medscape.com)

These vaccines alert the patient's immune system to proteins that are carrying cancer-typical alterations. (news-medical.net)
Mutations that result in alterations of the outer membrane porin proteins of Gram-negative organisms lead to decreased permeability of the drug through the outer membrane so less drug reaches the target enzyme. (cdc.gov)

ATRX mutations were identified in 10 % of the ATC samples. (uni-koeln.de)

[ 8 ] A paper from 2010 reported 18 new mutations, including 2 genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and 2 rare missense mutations. (medscape.com)

We provide a comprehensive overview of the molecular alterations driving ILC and have explored links with therapy response. (lu.se)

The relative contribution of such alterations for the biology and clinical behavior of GIST, however, remains elusive. (biomedcentral.com)
In this webinar, we will discuss how the combination of Epic Technology and the EGFR Genetic Alteration Panel offers convenient tools to screen for ligands or biologics that directly target or affect EGFR receptor biology. (atcc.org)

homozygous for the Psen1 mutation and homozygous for the co-injected APPSwe and tauP301L transgenes (Tg(APPSwe,tauP301L)1Lfa)) are viable, fertile and display no initial gross physical or behavioral abnormalities. (mmrrc.org)

For this purpose, we used complementary in silico analyses, in vitro minigene-based assays and RNA prepared from lymphoblastoid cells derived from patients with these mutations. (nih.gov)
This mutation is acquired during a person's lifetime and is present only in tumor cells. (medlineplus.gov)
The flow cytometry-based Pig-a assay detects cells deficient in Glycosylphosphatidylinositol (or GPI)-anchored surface markers and provides a rapid and cost-effective enumeration of cells that are presumed to contain mutations in the endogenous X-linked Pig-a gene. (fda.gov)
Somatic mutations are genetic alterations in cells that increase cancer risk. (fda.gov)

Early detection of these genetic alterations is important for diagnosis and therapy and for monitoring the progression of GIST. (biomedcentral.com)
Another research area that interests Dr. Revollo is the direct detection of somatic mutations. (fda.gov)
To achieve this, scientists developed a mouse model with mutant p53, a p53 mutation detection array and small molecules that restore wild type function to mutant p53. (europa.eu)

Mutations in KIT or the receptor tyrosine kinase PDGFRA are the hallmarks of molecular diagnosis of GIST. (biomedcentral.com)
In the present study, somatic mutations in KIT and PDGFRA were evaluated by direct sequencing analysis in a consecutive series of 80 GIST patients. (biomedcentral.com)
KIT or PDGFRA mutations were evaluated in all samples using direct sequencing analysis. (biomedcentral.com)

The MUTP53 project generated important information on the prognostic and predictive value of p53 mutations in tumours which should be of great value for clinical oncologists in the treatment of cancer patients. (europa.eu)

26-29 Where available, samples from more than one family member were examined to determine whether a germline gene alteration occurred de novo or was inherited. (bmj.com)
Germline testing is performed to identify an inherited genetic variant that is passed down from one or both parents, or in some cases germline testing will identify a mutation which occurs for the first time in the egg or sperm cell (de novo mutation). (cdc.gov)

We describe the isolation and characterisation of a mutation that induces aberrant globular embryo and endosperm morphology, globby1-1 ( glo1-1 ). (biologists.com)

A transposable element (TE, transposon, or jumping gene) is a nucleic acid sequence in DNA that can change its position within a genome, sometimes creating or reversing mutations and altering the cell's genetic identity and genome size. (wikipedia.org)

Loss‑of‑function NOTCH1 mutations are early events during esophageal tumorigenesis, whereas gain‑of‑function NOTCH1 mutations are late events during T‑cell leukemogenesis and B‑cell lymphomagenesis. (spandidos-publications.com)

Similar notation is used for up- and downstream sequences where either "Upstream" or "Downstream" is written before number of the mutation. (lu.se)
Activating mutations upstream may also underlie some epigenetic or within the ERK1/2 cascade are events that change cell signalling. (who.int)

Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD. (molvis.org)
Due to possible variations in the size of non-coding regions causing numbering problems, the PINs for up- and downstream and intron mutations have only running numbers without giving the actual mutated nucleotide(s). (lu.se)
Intron mutations are indicated by the intron number followed by running number of mutations in the intron. (lu.se)
Thus, Intron 5(7) indicates the seventh described mutation affecting intron 5. (lu.se)

However, a child may have characteristics of WS but with no identifiable mutation in the WRN gene. (medscape.com)

Twenty-one of the identified variants are listed in COSMIC as somatic mutations reported in other cancer entities. (uni-koeln.de)

Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)

17 Germline p16 INK4a alterations are associated with familial melanoma. (bmj.com)

Conclusions: We identified very limited genomic changes in the second K. pneumoniae clone during within-host evolution, but two of the three identified mutations conferred the MDR phenotype on the clone by modulating drug permeability. (elsevierpure.com)

However, intrahepatic CCA (iCCA) and extrahepatic CCA (eCCA) differ substantially in the frequency of many alterations. (nih.gov)

Tumor mutation burden (TMB) has been proved to be effective in differentiating responding population of ICI therapies in multiple clinical studies. (biomedcentral.com)

Genetic ancestry was inferred from Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets. (bvsalud.org)

Patients in the low ( n = 30), medium ( n = 29), and high ( n = 30) TMB tertiles had 1.1-2.5, 2.5-4.1, and 4.2-13.9 mutations/Mb, respectively. (biomedcentral.com)
Most of the entries are mutations observed in patients. (lu.se)
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. (cdc.gov)

Thus, #I651X652(1) means deletion at codon 651 causing frameshift mutation leading to appearance of the stop signal at codon 652. (lu.se)

The mutation (a CCG to CTG transition) at codon 82 in exon 4, resulting in a proline to leucine substitution, has not previously been reported and was not present in a control set of 60 healthy individuals. (lu.se)

The identification of genetic aberrations in proto-oncogenes that drive the growth of GISTs is critical for improving the efficacy of cancer therapy by matching targeted drugs to specific mutations. (biomedcentral.com)
In order to facilitate basic and translational cancer research, ATCC has designed and validated a number of Genetic Alteration Cell Panels targeting the key molecular pathways identified in these studies. (atcc.org)
Claus said women with mutations were more likely to be diagnosed with DCIS at a young age, to have also been diagnosed with ovarian cancer and to have a first degree family member (mother, sister or daughter) diagnosed with breast cancer, particularly at a young age. (sciencedaily.com)
Most of the genetic alterations are harmless, but some may contribute to cancer. (the-scientist.com)
In various forms of kidney cancer, NF2 mutations are common driver alterations. (kidneycancer.org)
Three of five woman with breast cancer (45, 57 and 65 years) were carriers of the alteration. (lu.se)
Although it seems unlikely that the p53 germline mutation is the major cause of disease predisposition in Lund 5, the data suggest that some p53 alteration may confer a subtle influence on breast cancer development and progression. (lu.se)
Certain genetic changes from birth (mutations) can increase the risk of cancer, and it is unknown if rates of these changes are different between different ancestry groups. (bvsalud.org)

Anatomy17

Organisms11

Diseases21

Chemicals and Drugs62

Analytical, Diagnostic and Therapeutic Techniques and Equipment32

Psychiatry and Psychology1

Phenomena and Processes116

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care6

Germline mutations7

Genes21

Tumors8

Copy number alterations2

Point mutations2

Genomic alterations3

BRCA13

TP531

Chromosome1

Methylation3

Oncogenic1

Stop codon2

Body's cells3

Occur3

Genetic mutations2

Epigenetic Alterations2

Protein6

Pathway1

Frequent1

Deletions2

IDH13

Found5

Proteins2

ATRX1

Missense1

Molecular alterations1

Biology2

Homozygous1

Cells4

Detection3

PDGFRA3

Prognostic1

Novo2

Aberrant1

Genome1

Leukemogenesis1

Upstream2

Intron4

Characteristics1

Variants1

Sequences1

Familial1

Phenotype1

Frequency1

Therapies1

Targets1

Patients3

Deletion1

Exon1

Cancer8