Mutations gene frequency. Medical search. Frequent questions

Clonal hematopoiesis (CH) is defined as the acquisition of somatic mutations in blood cells and is associated with smoking and exposure to genotoxic stimuli. (nature.com)
The frequency of somatic mutations in WTC-exposed first responders showed an age-related increase and predominantly affected DNMT3A , TET2 and other CH-associated genes. (nature.com)
Fig. 1: Prevalence and characteristics of somatic mutations seen in WTC-exposed first responders. (nature.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)
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)
The mAbs used different VH genes and carried a high frequency of somatic mutations. (jci.org)
Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. (frontiersin.org)
Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. (frontiersin.org)
For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC. (frontiersin.org)
Because germinal DNA from the index case was unavailable, somatic BRCA1/2 mutation analysis was performed on the DNA extracted from the formalin-fixed, paraffin-embedded CCA biopsy material. (frontiersin.org)
Through genomic analysis of tumor samples, the researchers identified somatic mutations in EGFR, KRAS, and other target genes. (dana-farber.org)
Using the genomic and ancestry data, the researchers assessed the associations of somatic mutations in target genes and global ancestry groups within a single admixed population. (dana-farber.org)
In the current issue of the same journal [6], researchers compared the frequency and type of mutation induced in embryonic stem cells and embryonic somatic cells. (i-sis.org.uk)
They found that the spontaneous mutation frequency in ES cells is 100-fold lower than that in mouse embryonic fibroblasts (a somatic cell line), which is similar to adult cells in vivo . (i-sis.org.uk)
These studies reveal that recurrent somatic mutations occur in only a handful of genes, with an overall mutational burden of roughly 1-2 per Mb. (springer.com)
Here we report the results of a collaborative study to discover somatic mutations in 188 human lung adenocarcinomas. (kb.se)
DNA sequencing of 623 genes with known or potential relationships to cancer revealed more than 1,000 somatic mutations across the samples. (kb.se)
These data provide evidence of somatic mutations in primary lung adenocarcinoma for several tumour suppressor genes involved in other cancers--including NF1, APC, RB1 and ATM--and for sequence changes in PTPRD as well as the frequently deleted gene LRP1B. (kb.se)
The antigen receptor loci are the only loci in humans to undergo programmed somatic gene modification. (lu.se)
To characterize the types of by-products of somatic hypermutation, we analyzed aberrant rearrangements involving the immunoglobulin loci in a human B-cell line (Ramos) that performs Ig V gene hypermutation constitutively during culture. (lu.se)

The investigators compared the frequency of pathogenic germline mutations in monoallelic cancer-predisposing genes between patients who had experienced progression and those who had not. (medscape.com)
Pathogenic germline mutations were identified in 9% of patients (59 of 640) with Barrett esophagus who had high-grade dysplasia or esophageal adenocarcinoma and in only 2.7% of those who did not experience progression. (medscape.com)
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). (frontiersin.org)
Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. (frontiersin.org)
It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. (amrita.edu)
In the absence of an identified pathogenic gene, phenotypic presentations that fulfill the above definition criteria are referred to as "LGMD unclassified. (medscape.com)
Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. (scirp.org)
[ 7 ] Most of the pathogenic mutations are in exon 10 of the gene between amino acids 680 and 761. (medscape.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 identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). (nih.gov)
Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. (nih.gov)
A BRCA2 mutation was detected, and one of the two daughters tested positive for the same mutation, thus confirming HBOC syndrome in the family. (frontiersin.org)
Risk factors for ovarian cancer include a family history of breast and/or ovarian cancer and inheritance of deleterious mutations in BRCA1, BRCA2, and selected other high-penetrance genes. (uofmhealth.org)
10 ] Further, among carriers of deleterious mutations in BRCA1 or BRCA2, increasing evidence suggests that many tumors previously classified as ovarian high-grade serous carcinoma may develop from malignant cells arising in the tubal epithelium (serous tubal intraepithelial carcinoma [STIC]), although these tumors continue to be referred to as ovarian cancers in most writings. (uofmhealth.org)
It is hypothesized that high-grade serous carcinomas among individuals who are not carriers of mutations in BRCA1 or BRCA2 may also develop in the fallopian tube, but few STICs have been identified among these women in the absence of concurrent high-stage disease. (uofmhealth.org)
A few individual genes differed in frequency: BRCA2 and PALB2 mutations were seen more often in Black women, while CHEK2 mutations were seen less often. (facingourrisk.org)
Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women. (medicalxpress.com)
A recent publication documents the efforts of a team of researchers affiliated with the Gynecologic Oncology Group (GOG) to determine if inherited genetic mutations other than BRCA1 and BRCA2 can also put a woman at risk of developing these diseases. (medicalxpress.com)
What the evaluations revealed was that 18 percent of the women with ovarian cancer carried mutations in genes associated with ovarian cancer risk beyond the BRCA1 and BRCA2 genes. (medicalxpress.com)
BRCA1 and BRCA2, located on the long arms of chromosomes 17 and 13, respectively, are thought to be tumor suppressor genes, inhibiting tumor development when functioning normally. (medscape.com)
Inactivating mutations identified to date are distributed throughout both genes, with an increased frequency of two distinct BRCA1 mutations and one BRCA2 mutation in individuals of Ashkenazi Jewish descent. (medscape.com)
Given the high lifetime penetrance of germline BRCA1 and BRCA2 mutations and the early age of onset in many carriers, it may seem prudent to carry out regular mammography on carriers from a young age. (medscape.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)
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)
In both never smokers and smokers, global Native American ancestry was associated with mutations in the EGFR gene, suggesting that the genomic differences associated with Native American ancestry are independent of smoking status. (dana-farber.org)
Unrepaired or incorrectly repaired DNA damage may lead to loss of heterozygosity, mutations, deletions, genomic rearrangements and chromosome loss. (cea.fr)
In mammals, mutation of proteins involved in the nuclear architecture (lamins and lamin associated proteins) results in diseases associated with genomic instability. (cea.fr)
Both are large genes, distributed over approximately 100,000 base pairs of genomic DNA, encoding large negatively charged proteins. (medscape.com)
Breast tumors can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. (lu.se)
Studies on the prevalence of Using a proteinase K and a saline extrac- the FVL mutation have revealed an uneven tion protocol, genomic DNA was extracted ethnic and geographical distribution. (who.int)

Using an amplicon-based high-sensitivity next generation sequencing panel test capable of measuring eight druggable genes (EGFR, BRAF, KRAS, ERBB2, ALK, ROS1, MET, RET), Dr. Morikawa prospectively enrolled consecutive patients who underwent diagnostic procedures from May 2020 to January 2022. (eurekalert.org)
111 cases (68.1%) had gene mutation, including 58 cases (35.6%) of EGFR, 25 cases (15.3%) of KRAS, 9 cases (5.5%) of MET Ex14 skipping, 6 cases (3.7%) of ALK fusion, 6 cases (3.7%) of BRAF, 4 cases (2.5%) of ERBB2, 2 cases (1.2%) of ROS1 fusion and 1 case (0.6%) of RET fusion. (eurekalert.org)
These are for the most part low-grade tumors that are characterized by a high frequency of mutations of KRAS , BRAF, ERBB2, CTNNB1 (the gene encoding beta catenin), and PIK3CA , low proliferation, and a 5-year survival of approximately 55% [ 2 ]. (hindawi.com)
Oncogenic mutations in KRAS or BRAF are frequent in colorectal cancer and activate the ERK kinase. (researchgate.net)
Here, we find graded ERK phosphorylation correlating with cell differentiation in patient-derived colorectal cancer organoids with and without KRAS mutations. (researchgate.net)
pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)

These tests, such as polymerase chain reaction (PCR) and DNA sequencing, look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patient's cancer cells. (lls.org)

The CF clinical phenotype shows wide variation ranging from severe disease in early childhood in those homozygous for the p.Phe508del mutation to absence of the vas deferens in otherwise healthy men homozygous for the p.Arg117His mutation. (tanaffosjournal.ir)
In colorectal cancer, the presence of a BRAF mutation can be associated with an aggressive phenotype and is a key prognostic biomarker for poor outcome particularly in late-stage disease. (hindawi.com)
Penetrance of a gene describes the frequency with which the characteristic it controls (phenotype) is seen in people who carry it. (cdc.gov)
Notably, LGMD subtypes are phenotypically highly variable, limb-girdle weakness may not be the predominant presentation, and mutation in genes assigned to LGMD subtypes may cause allelic conditions with a different phenotype. (medscape.com)
More than 310 sequence variants in the MEFV gene have been identified, although not all not associated with a disease phenotype. (medscape.com)
Homozygous H63D mutations occur rarely and have the same phenotype as homozygous C282y cases. (msdmanuals.com)

Recent studies have also found that presence of the BRAF mutation has direct implications for clinical management as along with TNM stage, BRAF mutational status was the only molecular variable that independently accounted for poor survival [ 13 ], and studies have found that BRAF mutant cancers are refractory to anti-EGRF therapy [ 14 , 15 ]. (hindawi.com)
Single, highly-penetrant mutations in so-called cancer genes cause only a small proportion of cancers. (cdc.gov)
It is worth noting that the therapeutic effect of KRASG12C inhibitors on different RAS allelic mutations or even different cancers with KRASG12C varies significantly. (researchgate.net)
Besides, the pathological characteristics and treatment responses of different cancers carrying RAS mutations are listed based on clinical reports. (researchgate.net)
[ 6 ] Approximately 91% of sporadic colorectal cancers harbor BRAF mutation, whereas BRAF is almost never mutated in colorectal cancers that arise as a consequence of Lynch syndrome. (medscape.com)
[ 9 ] Thus, persons with colorectal cancers with the BRAF mutation may be unlikely to have HNPCC, and further testing with full gene sequencing is probably unwarranted. (medscape.com)

Five participants (0.8%) had germline mutations in TP53 , and two (0.3%) had distinct, splice-donor mutations in CDH1 at intron 10. (medscape.com)
When this syndrome is suspected, investigation of germline BRCA mutations based on specific risk factors is required ( 2 ). (frontiersin.org)
In a study of 450 CRC diagnosed under 50 years via the Ohio Colorectal Cancer Prevention Initiative, germline DNA analysis for mutations in 25 cancer susceptibility genes was done in addition to assessing microsatellite instability and/or immunohistochemistry for MMR deficiency. (cdc.gov)
As part of the multicenter, population-based Ohio Colorectal Cancer Prevention Initiative, tumor DNA was sequenced for 419 consecutive CRC cases undergoing standard universal tumor screening and germline genetic testing, and 46 patients with CRC known to have LS due to a germline mutation in a mismatch repair gene. (cdc.gov)

There were significantly higher frequencies of IRF4 and TP53 mutations in Caucasian patients than in African-American patients. (ajmc.com)
Further investigation demonstrated that TP53 mutations were strongly associated with cases of MM in patients with high European ancestry, suggesting that a therapy targeting this mutation might be less effective for African-American patients than it would be for Caucasian patients. (ajmc.com)
They are characterized by a high frequency of mutations in TP53 , a tumor suppressor gene, and a high proliferative index. (hindawi.com)
Preliminary data suggests that these TP53 mutations may develop early in the carcinogenic process. (hindawi.com)

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. (uofmhealth.org)
[ 7 ] Full gene sequencing, albeit expensive, can detect all of the defective mismatch repair genes in HNPCC. (medscape.com)

ATM and CHEK2 were the most frequently mutated genes. (medscape.com)

The BRAF oncogene is an integral component of the MAP kinase pathway, and an activating V600E mutation occurs in 15% of sporadic colorectal cancer. (hindawi.com)
This review highlights the importance of the BRAF mutation occurring in colorectal cancer stratified for molecular background and discusses its prognostic and clinical significance. (hindawi.com)
The BRAF V600E mutation occurs early in tumourigenesis and is highly correlated with the serrated neoplasia pathway of colorectal cancer. (hindawi.com)
This pathway describes progression of a serrated precursor lesion, often followed by the onset of epigenetic instability involving promoter methylation and silencing of key tumour suppressor genes, and accounts for 15%-20% of sporadic colorectal cancer [ 1 , 2 ]. (hindawi.com)
This latter pathway involves the previously well-defined series of genetic aberrations such as APC mutation and chromosomal instability and accounts for the majority of colorectal cancer [ 12 ]. (hindawi.com)
Although the relevance of mutant BRAF in the clinical setting is increasingly being acknowledged, the relatively low frequency of its occurrence requires further studies and larger experimental cohorts to secure its mutational status as a definitive biomarker for colorectal cancer. (hindawi.com)
While LS is the most common form of hereditary syndrome associated with colorectal cancer, other genes are involved. (cdc.gov)
BRAF mutation testing will likely be increasingly used in the management of colorectal cancer, as more evidence emerges regarding its usefulness. (medscape.com)
[ 4 , 5 ] Some indication exists that BRAF mutation testing may be used to evaluate the likelihood of having hereditary nonpolyposis colorectal carcinoma (HNPCC) or Lynch syndrome versus sporadic colorectal cancer. (medscape.com)
Some evidence indicates that the presence of BRAF mutation may render colorectal cancer resistant to epidermal growth factor (EGFR)-inhibitors, such as cetuximab and panitumumab. (medscape.com)

Whereas all patients from the Jerusalem region are homozygous for a frequent mutant arylsulfatase A allele, five different mutations were found in the families from lower Galilee. (nih.gov)
In all instances, the patients were found to be homozygous for the mutations, and four of the five mutations occurred on different haplotypes. (nih.gov)
Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. (medlineplus.gov)
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (medlineplus.gov)
In conclusion, the observed frequency of Ile/Ile homozygous individuals in the region studied requires attention, because the implementation of controls using pyrethroid may increase the frequency of the mutant allele through the selection of resistant populations. (geneticsmr.com)
More than 80% of cases are caused by the homozygous C282Y mutation or the C282Y/H63D compound heterozygote mutation. (msdmanuals.com)
The disorder is autosomal recessive, with a homozygous frequency of 1:200 and a heterozygous frequency of 1:8 in people of northern European ancestry. (msdmanuals.com)
However, for unknown reasons, phenotypic (clinical) disease is much less common than predicted by the frequency of the gene (ie, many homozygous people do not manifest the disorder). (msdmanuals.com)

In the current study, 640 patients with Barrett esophagus and high-grade dysplasia or esophageal adenocarcinoma were tested for the presence and frequency of cancer-predisposing genes. (medscape.com)
Cite this: Mutations May Predict Progression From Barrett's to Cancer - Medscape - Aug 10, 2023. (medscape.com)
CEST) -- Personalized medicine for lung cancer using molecular-targeted drugs is common but there have been no prospective validation studies done on the usefulness of lung cancer gene panel testing using cytology samples. (eurekalert.org)
Because of its genetic basis, much interest has centred on identification of genes for cancer and their usefulness in routine screening. (cdc.gov)
Highly penetrant gene mutations confer an exceptionally high risk of cancer in the carriers. (cdc.gov)
and (b) mutations in genes that are not directly involved in the cancer process. (cdc.gov)
Genes implicated in rare and cancer-inducing conditions, such as xeroderma pigmentosum, show common polymorphisms that belong to the first category (a) and whose effects on the protein function (a DNA-repair enzyme) are mild. (cdc.gov)
Mild defects in DNA repair can predispose to cancer and polymorphisms in the xeroderma pigmentosum DNA repair gene have been associated with an increased risk of skin cancer. (cdc.gov)
About 50% of the population have the GSTM1 null genotype (a polymorphism in which the entire gene is deleted), but only a slightly increased risk of some forms of cancer. (cdc.gov)
Cancer is caused by genetic mutations, and cell phones emit a type of low-frequency energy that does not damage genes. (cancer.gov)
A tubal origin for high-grade serous ovarian cancer is supported by gene expression profiles of OSC that reveal that they are more similar to normal müllerian epithelium than the ovarian surface epithelium [ 7 ]. (hindawi.com)
The CARRIERS study looked at the rate of inherited mutations in women with and without breast cancer. (facingourrisk.org)
In an extension of the CARRIERS study, researchers found no difference in the frequency of inherited mutations in breast cancer genes among Black and white women with breast cancer. (facingourrisk.org)
Should I have genetic testing for inherited mutations in cancer genes? (facingourrisk.org)
I have a gene that is linked to an increased risk of breast cancer. (facingourrisk.org)
This gene is amplified in high-grade dysplastic lesions from bronchial biopsy specimens obtained from preinvasive squamous lung cancer. (sigmaaldrich.com)
Frequency of mutations in PIK3CA gene is higher in tumors without lymph node metastasis, than those with in gastric cancer. (sigmaaldrich.com)
Thus, it might be essential to evaluate the mutations in this gene to determine cetuximab treatment in gastric cancer patients. (sigmaaldrich.com)
The results of this trial expanded our knowledge of the genes that we suspect cause hereditary ovarian cancer, bringing the total to 11," Dr. DiSilvestro says, adding that, "Genetic testing should now begin screening for these nine additional genetic mutations so women carrying the genes can make educated decisions about their health care future. (medicalxpress.com)
BRAF gene mutation testing has emerged as an important tool for diagnosis, prognosis, treatment, and predicting patient outcome in response to targeted therapy for multiple cancer types. (medscape.com)
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)
Previous studies have shown that inhibition of TNF family member FN14 (gene: TNFRSF12A) in colon tumors decreases inflammatory cytokine expression and mitigates cancer-induced cachexia. (bvsalud.org)

The team - which includes Paul DiSilvestro, MD, head of research with the Program in Women's Oncology at Women & Infants Hospital and professor of obstetrics and gynecology at The Warren Alpert Medical School of Brown University - published their findings in the article "Inherited Mutations in Women with Ovarian Carcinoma" in the recent issue of the Journal of the American Medical Society . (medicalxpress.com)

The joint allele frequency spectrum (JAFS) is the joint distribution of allele frequencies across two or more related populations. (wikipedia.org)
The JAFS for d {\displaystyle d} populations, with n j {\displaystyle n_{j}} sampled chromosomes in the j {\displaystyle j} th population, is a d {\displaystyle d} -dimensional histogram, in which each entry stores the total number of segregating sites in which the derived allele is observed with the corresponding frequency in each population. (wikipedia.org)
The São Miguel do Oeste and Chapecó populations had similar frequencies of Val and Ile and were not in Hardy-Weinberg equilibrium, suggesting that a selection pressure or other evolutionary force has occurred. (geneticsmr.com)
Reviewing Cavalli-Sforza's 2000 book Genes, Peoples, and Languages in The New York Review of Books , Jared Diamond praised the Stanford researcher for "demolishing scientists' attempts to classify human populations into races in the same way that they classify birds and other species into races. (stanford.edu)
He personally believes it is possible that some populations will have more advantageous intelligence genes than others. (gnxp.com)
Most annotations are related to variant frequencies in different populations. (lu.se)

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. (medscape.com)
Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. (medscape.com)
To address this, Dr. Morikawa and colleagues evaluated the feasibility of performing gene panel tests using cytological specimens including transbronchial brushing, transbronchial needle aspiration, and pleural effusion in clinical practice. (eurekalert.org)
Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. (scirp.org)
This possibility is supported by patients who meet criteria for FMF without identifiable mutations in MEFV and who have clinical manifestations that are indistinguishable from patients with MEFV mutations. (medscape.com)
Clinical characteristics and survival rates were assessed by mutation status. (medicalxpress.com)
V600E is the most common gene mutation for the BRAF gene and is the most common mutation tested for in clinical laboratories. (medscape.com)
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. (cdc.gov)

In population genetics, the allele frequency spectrum, sometimes called the site frequency spectrum, is the distribution of the allele frequencies of a given set of loci (often SNPs) in a population or sample. (wikipedia.org)
Because an allele frequency spectrum is often a summary of or compared to sequenced samples of the whole population, it is a histogram with size depending on the number of sequenced individual chromosomes. (wikipedia.org)
Each entry in the frequency spectrum records the total number of loci with the corresponding derived allele frequency. (wikipedia.org)
The expected allele frequency spectrum may be calculated using either a coalescent or diffusion approach. (wikipedia.org)
The demographic history of a population and natural selection affect allele frequency dynamics, and these effects are reflected in the shape of the allele frequency spectrum. (wikipedia.org)
However, sometimes the ancestral allele cannot be determined, in which case the folded allele frequency spectrum may be calculated instead. (wikipedia.org)
The [ 3 , 2 ] {\displaystyle [3,2]} entry would record the number of observed polymorphic loci with derived allele frequency 3 in population 1 and frequency 2 in population 2. (wikipedia.org)
Moreover, the allele frequency of gene mutations in cytological specimens showed a correlation with tissue specimens. (eurekalert.org)
The allele frequency was 3.5% in the normal Tunisian population. (who.int)

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)
Further, the researchers found that Native American ancestry was predominantly associated with oncogenic mutations in the EGFR gene, but not with non-oncogenic mutations. (dana-farber.org)

ABSTRACT A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in -thalassaemia carriers and investigate their influence on iron absorption. (who.int)
ABSTRACT This study determined the prevalence of inherited factor V Leiden mutation in a group of 128 thrombosis patients (102 with venous thrombosis and 26 with arterial thrombosis) attending a hospital in Sousse, Tunisia, and a control group of 100 with no history of thrombosis. (who.int)
disease, we assessed the prevalence of FVL mutation among thrombosis patients and Disorders of the haemostatic mechanisms healthy subjects in a hospital in Sousse, that contribute towards a predisposition to Tunisia. (who.int)

Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. (mdpi.com)
This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the CFTR , PAH , SERPINA1, and GJB2 genes. (mdpi.com)
Similar evolutionary reasoning may explain why many people in malaria-prone parts of Africa carry gene variants linked to malaria resistance. (gnxp.com)
Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (cancerindex.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)

Nonsense or missense mutations in the MEFV (Mediterranean fever) gene appear to cause the disease in many cases. (medscape.com)
FMF is a recessive genetic disease associated with missense and nonsense mutations in the MEFV gene, which is located on the short arm of chromosome 16. (medscape.com)
missense mutation in the exon 5 Date 03-Aug-2000 (Rel. (lu.se)

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. (nih.gov)
The Von Hippel-Lindau ( VHL ) tumour suppressor gene undergoes bi-allelic knockout in the vast majority of clear cell RCCs. (springer.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)
Genes deregulated in high risk tumors showed opposite changes upon treatment suggesting a positive effect of retinoids. (uni-wuerzburg.de)

Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
Result: It was observed that maximum number of variations exist in exon 5 of HNF1-alpha gene which may be referred to as "Mutational Hotspot" in our Eastern Indian population. (scirp.org)
1998).Linkage and molecular scaning analysis of MODY 3/hepatocyte nuclear factor 1-alpha gene in typical familial type 2 diabetes: Evidence for novel mutation in exon 8 and 10. (scirp.org)
Detection of point mutations associated with genetic diseases by an exon scanning technique. (nih.gov)
One mutation, in exon 1 at amino acid 148, may represent as many as one quarter of the known mutations. (medscape.com)
nonsense mutation in the exon 1 Date 03-Aug-2000 (Rel. (lu.se)
Accession A0068 Systematic name Allele 1 and 2: g.1135C>T, c.7C>T, r.7c>u, p.Gln3X Original code F1 Description Allele 1 and 2: A point mutation in the exon 1 leading to a Description premature stop codon Date 16-Mar-2007 (Rel. (lu.se)

It has marked antitumor effects against melanoma cell lines with the BRAF V600E mutation but not against cells with wild-type (non-mutated) BRAF . (medscape.com)

The nature of the specific mutations was also determined by sequencing. (scirp.org)

The clustering of this rare lysosomal storage disease in a small geographic area usually suggests a founder effect, so the finding of five different mutations is surprising. (nih.gov)
Although certain mutations are more common in particular ethnic groups, patients usually inherit different mutations from each parent. (medscape.com)

Many recurrent mutations have prognostic value and show promise in aiding decisions regarding treatment stratification. (springer.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)
What pathways are this gene/protein implicaed in? (cancerindex.org)
We shall consider each subtype in turn describing genes and pathways of oncogenesis and how these relate to prognosis and treatment response. (springer.com)

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. (medscape.com)
However, researchers lead by Kei Morikawa, St. Marianna University School of Medicine, Japan today reported data that the success rate of gene analysis using cytological specimens was extremely high, and the yield and quality of the extracted nucleic acid were also sufficient for panel analysis. (eurekalert.org)
The correlation coefficient of the gene allele ratio in 61 cases compared with the tissue sample was 0.717, showing a high correlation. (eurekalert.org)
The success rate of gene analysis using cytological specimens was extremely high, and the yield and quality of the extracted nucleic acid were also sufficient for panel analysis," Dr. Morikawa reported. (eurekalert.org)
Cost-benefit analysis is urgently needed for screening for single-gene diseases versus multigenetic diseases, and for genes of low versus high penetrance. (cdc.gov)
1999) High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. (scirp.org)
The finding of occult invasive and intraepithelial fallopian tube carcinomas in prophylactically removed specimens from asymptomatic high-risk BRCA 1/2-mutation carriers supports the notion of an origin for OSC in the fallopian tube. (hindawi.com)
It is estimated that 60% of sporadic ovarian carcinomas and the majority of those diagnosed in BRCA1 mutation carriers are of the high-grade serous type [ 4 , 5 ]. (hindawi.com)
With such a relatively high frequency and spectrum of mutations, genetic counseling and testing with a multigene panel may be beneficial for all patients with early-onset CRC. (cdc.gov)
The Kermode bear is not a distinct species of black bear but a subspecies with a high frequency of a unique mutation in a pigmentation gene. (nwf.org)
Our analysis identified 26 genes that are mutated at significantly high frequencies and thus are probably involved in carcinogenesis. (kb.se)
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. (cdc.gov)

Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)

There are 4 types of hereditary hemochromatosis, types 1 through 4, depending on the gene that is mutated. (msdmanuals.com)
Type 2 hereditary hemochromatosis (juvenile hemochromatosis) is a rare autosomal recessive disorder caused by mutations in the HJV gene that affect the transcription protein hemojuvelin, or mutations in the HAMP gene, which directly codes for hepcidin. (msdmanuals.com)

The researchers next developed a local Native American ancestry risk score to evaluate the association of ancestry with EGFR mutation frequency across multiple distinct sites in the genome. (dana-farber.org)

Meyerson and colleagues then stratified patients by their self-reported smoking status and evaluated the association between global ancestry and mutations in target genes. (dana-farber.org)

Although causative gene mutations have been well characterized for LGMD, no specific treatment is available for any of the LGMD syndromes yet. (medscape.com)

A total of 41 -thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. (who.int)
H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in -thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. (who.int)
Our study has shown that the HFE gene mutations are common in Egypt among -thalassaemia carriers compared with normal controls. (who.int)

Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining. (lu.se)

Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. (medscape.com)
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
The discovery of an activating point mutation in the Janus kinase 2 gene ( JAK2 V617F) in a significant portion of patients with MPNs led to improved understanding of the pathobiology of these disorders and prompted rapid development of JAK inhibitors. (cancernetwork.com)

Thus, deep understanding of the characteristics of each allelic RAS mutation will be a prerequisite for developing new RAS inhibitors. (researchgate.net)
The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. (medscape.com)
2: autosomal recessive), and an alphabet based on the order of discovery of linkage to a specific, certain genetic locus or a new disease gene. (medscape.com)
Mutations in transferrin receptor 2 ( TFR2 ) gene that codes for a protein that appears to control saturation of transferrin, can cause a rare autosomal recessive form of hemochromatosis. (msdmanuals.com)

RÉSUMÉ La présente étude cas-témoins visait à déterminer la prévalence des mutations C282Y, H63D et S65C du gène HFE chez les porteurs d'une -thalassémie et à rechercher leur influence sur l'absorption du fer. (who.int)
Au total, 41 porteurs d'une -thalassémie et 40 sujets témoins ne présentant aucune hémoglobinopathie ont participé à cette étude visant à examiner les mutations C282Y, H63D et S65C du gène HFE par la méthode du polymorphisme de longueur des fragments de restriction d'ADN amplifié. (who.int)
The C282Y and H63D mutations are uncommon among people with African ancestry and rare among people with Asian ancestry. (msdmanuals.com)

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. (cdc.gov)

After adjusting for a variety of factors, including self-reported smoking status and sample-specific tumor mutational burden, the researchers found that global Native American ancestry was positively correlated with mutations in the EGFR gene. (dana-farber.org)
They found that the correlation between ancestry and increased mutation frequency in the EGFR gene was stronger at the local genome level than the global genome level. (dana-farber.org)

Information about mutation frequencies were compared with the National Heart, Lung and Blood Institute GO Exome Sequencing Project and the Exome Aggregation Consortium. (medicalxpress.com)

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). (medlineplus.gov)

The MCEE gene is found on chromosome 2 . (medlineplus.gov)
This gene is localized to human chromosome 3q. (sigmaaldrich.com)

Background: Cystic Fibrosis (CF) is a life-threatening recessive genetic disorder resulting from mutations in the gene encoding the fibrosis transmembrane conductance regulator protein (CFTR). (tanaffosjournal.ir)
Most of the island's black-coated bears carry this recessive Kermode gene. (nwf.org)

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000. (nih.gov)
The study showed either an association between this mutation with severity of disease and sex or an association between p.Arg117His mutations and age at diagnosis. (tanaffosjournal.ir)
As the cataloguing of the human genome proceeds, the rate at which specific genes are being implicated in disease processes is increasing. (cdc.gov)
Further study is needed to identify other mutations that may cause the disease in these patients. (lls.org)

Materials and Methods: DNA was extracted from whole blood from 62 patients with CF. The CFTR mutation was determined by Allele-Specific PCR assay. (tanaffosjournal.ir)
Mutations in CFTR were detected in 64.5% of the patients. (tanaffosjournal.ir)
Conclusion: The geographic distribution of gene mutation in Iranian cystic fibrosis patients was very heterogenic. (tanaffosjournal.ir)
Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients', TANAFFOS (Respiration) , 17(2), pp. 73-81. (tanaffosjournal.ir)
Progression to esophageal adenocarcinoma in patients with mutations was seen across the age spectrum, suggesting that additional triggers, such as having Barrett esophagus and experiencing environmental exposures, may be necessary for carcinogenesis. (medscape.com)
FAM46C mutations were present in 8.3% of the Caucasian patients and in 12.6% in African American patients. (ajmc.com)
In select patients with the appropriate ethnic background, testing for a limited number of genes may be used. (medscape.com)
Of all tested patients, 16% had gene mutations. (cdc.gov)
Approximately 90 percent of patients with ET have a mutation of the JAK2, MPL or CALR gene. (lls.org)
About 10 percent of ET patients do not have a JAK2, MPL or CALR gene mutation. (lls.org)
Evidence exists that vemurafenib improves overall and progression-free survival in patients with advanced melanoma with the V600E mutation. (medscape.com)
Preliminary tests, such as BRAF mutation testing, may be useful in determining which patients are likely to benefit from full gene sequencing. (medscape.com)
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. (cdc.gov)
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. (cdc.gov)

These results are reinforced by data integration including single nucleotide polymorphism array and gene expression array. (kb.se)
G) point mutation at nucleotide 1691 in Farhat Hached Hospital, Sousse. (who.int)

The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)

The BRAF (v-raf murine sarcoma viral oncogene homolog B) gene encodes a protein that belongs to the Raf family of serine/threonine protein kinases. (hindawi.com)
MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. (scirp.org)

Anatomy9

Organisms11

Diseases16

Chemicals and Drugs55

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology2

Phenomena and Processes99

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena3

Information Science5

Named Groups7

Health Care10

Geographicals2

Somatic20

Pathogenic10

BRCA213

Genomic8

KRAS6

Proteins1

Phenotype6

Cancers6

Germline4

TP534

Mismatch repair genes2

Frequently mutated genes1

Colorectal cancer10

Homozygous8

Cancer23

Inherited mutations in women1

Populations6

Clinical8

Allele frequency9

Oncogenic mutations2

Prevalence3

Variants6

Missense3

Tumour2

Tumors2

Exon7

BRAF V600E1

Specific mutations1

Different mutations2

Prognostic1

Pathways3

High12

Chromatin genes1

Hereditary2

Distinct1

Target genes1

LGMD1

Carriers3

Deletions1

Disorders3

Allelic2

Autosomal recessive3

C282Y3

Causative1

EGFR2

Lung1

Atypical1

Chromosome2

Recessive2

Disease4

Patients14

Nucleotide2

Chromosomal1

Encodes2