Mutations oncogenes. Medical search. Frequent questions

[ 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)
Somatic mutations are not inherited. (medlineplus.gov)
Somatic mutations in the CTNNB1 gene are found in almost all pilomatricomas, a type of benign skin tumor associated with hair follicles. (medlineplus.gov)
Like pilomatricomas, pilomatrix carcinomas have somatic mutations in the CTNNB1 gene. (medlineplus.gov)
We developed a high-resolution melting (HRM) assay to detect somatic mutations in exon 2, notably codons 12 and 13 of the KRAS gene using the intercalating dye SYTO 9. (nih.gov)
There are various methods for the detection of somatic mutations. (medpagetoday.com)
Since the identification of somatic mutations in the BRAF oncogene, targeted therapies directed toward mutated tumors have emerged and demonstrated dramatic clinical effect. (lu.se)

Activating mutations of Ras genes are often observed in cancer. (nature.com)
Proto-oncogenes are genes that normally help cells grow and divide to make new cells, or to help cells stay alive. (cancer.org)
Some people have differences in the 'code' of their genes that can cause an oncogene to be turned on all the time. (cancer.org)
But mutations in specific types of genes can cause cancer. (healthline.com)
Like with oncogenes, mutations that affect tumor suppressor genes are usually not inherited. (healthline.com)
But mutations that affect DNA repair genes can prevent this process from happening. (healthline.com)
Inherited mutations in these genes can often lead to breast or ovarian cancer. (healthline.com)
Other resistance mechanisms include DNA repair, suppression of oncogene activation, tumor-suppressor genes, epigenetic stabilization of chromatin structure, and apoptosis. (the-scientist.com)
The mutated genes responsible for this proliferation are called cancer genes, or oncogenes, but this is a misnomer. (the-scientist.com)
Mutations in these genes can drive aberrant growth. (the-scientist.com)
Mutations in these genes are sometimes referred to as mutator mutations, because they stall the cell's ability to correct potentially cancer-causing mutations. (the-scientist.com)
Tumor risk can also be influenced by mutations in genes that control the fidelity of DNA replication, the efficacy of DNA repair, and the checkpoint controls involved in DNA synthesis and chromosomal mechanics. (the-scientist.com)
In addition, testing for mutations breast cancer susceptibility genes or for their diminished expression adds to the ability to assess breast cancer IRR at an individual level, because local biological activity, examined with the aid of QBS, results abnormal. (frontiersin.org)
DNA damage affects the expression of a variety of genes, including proto-oncogenes and cancer suppressor genes. (frontiersin.org)
Changes in the activity of proto-oncogenes and cancer suppressor genes are crucial in tumorigenesis ( 4 ). (frontiersin.org)
Sequenced genomes reveal mutations that disable single genes and can point to new drugs. (natureasia.com)
Deletion or mutation of genes coding for Ku70 or Ku80 proteins results in a highly radiosensitive phenotype [10]. (termedia.pl)
7 Importantly, it is believed that other hitherto unknown genes also play important roles in lymphomagenesis in addition to the synergistic effects of the aforementioned two oncogenes since human B-cell lymphomas often show a variety of genes subject to alterations and/or deregulated expression. (haematologica.org)
Abnormalities (mutations) affecting critical genes are believed to contribute to the development of cancer. (msdmanuals.com)
Oncogenes are mutated or amplified forms of genes that in their normal state regulate cell growth. (msdmanuals.com)
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)

76% of Ras-mutant cancer patients harbor KRAS mutations versus only 7% with HRAS mutations [ 1 ]. (nature.com)
Oncogenic mutations in codons 12, 13, or 61 of the rat sarcoma (RAS) family of small GTPases, Kirsten rat sarcoma viral oncogene homolog (KRAS), Harvey rat sarcoma viral oncogene homolog (HRAS), and neuroblastoma RAS Cd248 viral oncogene homolog (NRAS) occur in approximately one-third of all human cancers with 850173-95-4 supplier NRAS mutations found in about 15C20% of melanomas (1C7). (technologybooksindustrialprojectreports.com)
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)
KRAS mutations are also predominantly found in adenocarcinomas and are seen in approximately 25% of cases. (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)
[ 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)
We describe here the application of high-resolution melting analysis (HRM) to screen for KRAS mutations in clinical cancer samples. (nih.gov)
In non-small cell lung cancer, KRAS mutations have been shown to identify a group of patients that do not respond to EGFR targeted therapies and the identification of these mutations is thus clinically important. (nih.gov)
We tested 3 different cell lines with known KRAS mutations and then examined the sensitivity of mutation detection with the cell lines using 189 bp and 92 bp amplicons spanning codons 12 and 13. (nih.gov)
We then screened for KRAS mutations in 30 non-small cell lung cancer biopsies that had been previously sequenced for mutations in EGFR exons 18-21. (nih.gov)
Known KRAS mutations in cell lines (A549, HCT116 and RPMI8226) were readily detectable using HRM. (nih.gov)
Nine of the 30 non-small cell lung cancer biopsies had KRAS mutations detected by HRM analysis. (nih.gov)
Mutations in KRAS and EGFR were mutually exclusive. (nih.gov)
Our initial work examining KRAS mutations in archived samples are encouraging. (prnewswire.com)
The emergence of oncogene mutations associated with anti-EGFR treatment resistance, which include KRAS and EGFR T790M, is the main cause of disease progression after initial positive response to first-line colorectal and lung cancer therapies," said Marek Minarik , Ph.D., lead investigator and the director of the Center for Applied Genomics of Solid Tumors at Genomac. (prnewswire.com)
Recent research has classified lung adenocarcinoma patients with KRAS mutation into three subtypes by co-occurring genetic events in TP53 (KP subgroup), STK11/LKB1 (KL subgroup) and CDKN2A/B inactivation plus TTF-1 low expression (KC subgroup). (cancerindex.org)
a Simplified representations of transgenes and the RAS-ERK and Wnt/β-catenin pathways, indicating relative positions of the KRAS and BRAF proto-oncogenes. (researchgate.net)
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)
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. (lu.se)

Activating mutations in the neuroblastoma rat sarcoma viral oncogene homolog (NRAS) gene are common genetic events in malignant melanoma being found in 15C25% of cases. (technologybooksindustrialprojectreports.com)
Recently, an oral mitogen activated protein (MAP)/extracellular signal-regulated (ERK) kinase (MEK) inhibitor (MEK162) was tested in patients with metastatic melanoma harboring murine sarcoma viral oncogene homolog B1 (BRAF) or NRAS mutations with encouraging results (12). (technologybooksindustrialprojectreports.com)
Levels of phospho-ERK, p-MEK phospho-murine thymoma viral oncogene homolog 1 (p-AKT), phospho-S6 ribosomal protein (p-S6), and phosphatase and tensin homolog (PTEN) were measured in 14 main melanomas and 18 metastases from 32 individual specimens of NRAS-mutated melanoma. (technologybooksindustrialprojectreports.com)
Genetic alterations of BCL2 (B-cell CLL/lymphoma 2), MYC [v-myc myelocytomatosis viral oncogene homolog (avian)] and CCND1 (cyclin D1) are the most frequently found alterations in human B-cell lymphomas. (haematologica.org)
During the past decade, advancement within the field of genomics has led to the identification of melanoma-specific mutations, namely, v-Raf murine sarcoma viral oncogene homolog B and neuroblastoma RAS viral oncogene homolog, as well as to the development of agents that target these driver mutations. (medscape.com)
Such specific targets as the neuroblastoma RAS viral oncogene homolog ( NRAS ) and v-Raf murine sarcoma viral oncogene homolog B ( BRAF ) have been exploited for therapeutic use. (medscape.com)

Activating point mutations in RET can give rise to the hereditary cancer syndrome known as multiple endocrine neoplasia type 2 (MEN 2). (wikipedia.org)
Among activating class III receptor tyrosine kinase (Flt3) mutations, internal tandem duplications of Flt3 (Flt3-ITD) are detected in about 25% of patients with acute myeloid leukemia (AML). (nih.gov)
In contrast, mutations within the tyrosine kinase domain of Flt3 (Flt3-TKD mutations) are less frequent (approximately 7%), and there are only limited data on the frequency of recently demonstrated activating Flt3 point mutation at codon 592 (Flt3-V592A mutation). (nih.gov)
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)
Rearranged during transfection (RET), kinase alterations, which include fusions and activating point mutation, lead to overactive RET signaling and uncontrolled cell growth. (medscape.com)
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)

Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. (nih.gov)
Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557-558 Deletion Mutations. (nih.gov)
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)
CTNNB1 gene mutations are found in about 85 percent of all noninherited (sporadic) desmoid tumors. (medlineplus.gov)
The CTNNB1 gene mutations that cause desmoid tumors are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. (medlineplus.gov)
The CTNNB1 gene mutations that cause desmoid tumors usually occur in a region of the gene called exon 3. (medlineplus.gov)
However, although ER positive tumors tend to have a better prognosis in unselected breast cancer patients, germline CHEK2 mutations are associated with increased risk of the development of ER positive breast cancer with an unfavorable prognosis [24-26]. (termedia.pl)
PJS is autosomal-dominant condition caused by mutations of STK11, characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and predisposition to a range of epithelial cancers: including colorectal, gastric, pancreatic, breast, ovarian cancers and sex cord tumors with annular tubules). (cancerindex.org)
This becomes especially applicable in tumors with more than one identified mutation in the oncogene panel. (medpagetoday.com)
Mutations evolve from the early to metastatic setting with a discordance in approximately one third of tumors, highlighting the need for repeat biopsy. (medpagetoday.com)
Mutation was the most prevalent second hit in tumors with biallelic inactivation and tumors of patients with Lynch syndrome. (bvsalud.org)
Expression of p63 is almost exclusively restricted to epithelial cells, mutations in this gene are infrequent, and its expression is increased in a variety of solid tumors, particularly those of the head and neck area 12,13 . (bvsalud.org)

Proto-oncogenes help a cell grow typically. (healthline.com)

It is now clear that synonymous mutations are not neutral but instead frequently adversely affect the proteins encoded. (i-sis.org.uk)
It is reasonable to assume that the synonymous mutations may have created proteins with adverse phenotypes and contributed to the deterioration in public health, and this must now be thoroughly investigated together with mandatory labelling of GM products. (i-sis.org.uk)

In contrast, four of 31 patients without the ras mutation underwent transformation to AML within 12 months of genetic analysis. (ashpublications.org)
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)
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)
Some people inherit genetic mutations that increase their cancer risk, but most mutations are spontaneous. (healthline.com)
Technically, all cancer is genetic, since it results from DNA damage that causes genetic mutations. (healthline.com)
The rest were due to genetic factors - inherited mutations or spontaneous errors in DNA replication. (healthline.com)
Scientists already know that cancer is a genetic disease, caused by mutations or other changes in the DNA of cells, but to date no one has done a systematic analysis of all the mutations in various tumours. (news-medical.net)
National Institutes of Health Director Dr. Elias Zerhouni, says being able to identify the precise genetic mutations in a tumour might make it easier to use intelligently designed combinations of drugs. (news-medical.net)
Genetic testing of the progressed pulmonary lesion revealed the BRAF V600E mutation, and acquired new mutations and AR amplification. (karger.com)
Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine. (medicalxpress.com)
Single nucleotide mutations form the majority of genetic polymorphisms (single nucleotide polymorphisms, SNPs) in populations. (i-sis.org.uk)

NRAS»HRAS protein expression in cells that correlate with the rank order of Ras mutation frequencies in cancer. (nature.com)
These mutations lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed. (medlineplus.gov)
CTNNB1 gene mutations in Wilms tumor result in an overly active protein. (medlineplus.gov)
HER-2/neu , also known as c-erbB-2/neu , is an oncogene located in chromosome 17 which encodes HER-2/neu, a transmembrane protein belonging to the EGFR family. (degruyter.com)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
There are only a few reports on the expression of Ku70/80 in breast cancers [17-21], but the association of this protein with germline CHEK2 mutations in breast cancer patients is unknown. (termedia.pl)
Until the current decade, synonymous mutations were assumed to be neutral, with no effect on the protein or any other functions of the organism. (i-sis.org.uk)
Synonymous mutations may lead to changes in protein folding related to translation pausing, RNA splicing, and alterations in enzyme specificity [1]. (i-sis.org.uk)
Synonymous mutations may lead to ribosome stalling, thereby changing protein folding pathways affecting enzyme activity or antigenicity [5]. (i-sis.org.uk)
The ROS1 mutation is a mutation occurring in the ROS1 oncogene on chromosome 6 resulting in a defective receptor tyrosine kinase which has structural similarity to the anaplastic lymphoma kinase (ALK) protein. (radiopaedia.org)
As a result of such mutations, p21-RAS becomes locked in its active conformation, leading to the constitutive activation of the protein and tumor development. (medscape.com)
The p63 protein, a homologue of p53, may be associated with tumor formation in the epithelial tissue, acting as an oncogene 11,12 . (bvsalud.org)

This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. (nih.gov)

Rat sarcoma (RAS), as a frequently mutated oncogene, has been studied as an attractive target for treating RAS-driven cancers for over four decades. (researchgate.net)

These mutations affect 2 adjacent BCL6 binding sites located within the first noncoding exon of the gene, and they prevent BCL6 from binding its own promoter, thereby disrupting its negative autoregulatory circuit. (unipg.it)
[ 5 ] By contrast, the exon 20 T790M mutation is associated with acquired resistance to TKI therapy. (medscape.com)
More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. (drugbank.com)

I'm very interested in oncogenic Ras, which is associated with about 30% of human cancers and is the first mutation event in pancreatic cancer. (cardiff.ac.uk)
BRAF mutations are found in more than 80 percent of melanomas, but only 1-3 percent of lung cancers. (news-medical.net)
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)

Carcinogenesis is a process driven by multiple co-operating oncogenic mutations in which features of the cancer cell phenotype, such as proliferative advantage, only emerge as a result of the interplay between these mutations. (rochester.edu)
The Land laboratory has pioneered investigation of the nature and underlying principles of cancer gene cooperation originating with the discovery that multiple oncogenic mutations are required for malignant cell transformation. (rochester.edu)
Plac8 Links Oncogenic Mutations to Regulation of Autophagy and Is Critical to Pancreatic Cancer Progression. (rochester.edu)
Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype. (rochester.edu)

There is a high degree of correlation between the position of the point mutation and the phenotype of the disease. (wikipedia.org)

Somatic mutation of the N-ras oncogene occurs frequently in de novo acute myeloid leukemia (AML). (ashpublications.org)
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. (lu.se)

Trovagene Precision Cancer Monitoring SM technology will be used in two prospective clinical studies for the early detection of emerging oncogene mutations indicative of resistance to targeted therapies used to treat colorectal and lung cancer. (prnewswire.com)
Such tumor profiles can subsequently be applied to exclusively tailor cancer therapies to directly target a causative mutation for a malignancy, ultimately achieving a personalized and precise approach to cancer treatment. (biomedcentral.com)

The B-Raf proto-oncogene (BRAF V600E ) gene mutation has been identified in a variety of malignancies, but no evidence of the efficacy of vemurafenib treatment in BRAF V600E mutant breast cancer (BC) has been reported. (karger.com)
We reported a 60-year-old woman with confirmed triple-negative BC with BRAF V600E mutation. (karger.com)
The BRAF V600E mutation may be a potential prognostic factor and therapeutic target for BC. (karger.com)
The prognosis of triple-negative breast cancer with the BRAF V600E mutation is poor. (karger.com)
Point mutations of BRAF, are present in over 60 percent of melanomas and have been found at lower rates in lung, colon, and ovarian carcinomas. (news-medical.net)
Mutations of the BRAF gene can cause certain inherited diseases and birth defects. (news-medical.net)
These mutations can also cause cancer, making BRAF an oncogene. (news-medical.net)
There are over 30 mutations of BRAF that have been connected to cancer. (news-medical.net)
The most common BRAF mutation leading to cancer is substitution of adenine for thymine at nucleotide 1799. (news-medical.net)

By using a strategy for analysis of gene mutation based on in vitro amplification of target sequences by the polymerase chain reaction (PCR) and selective oligonucleotide hybridization we analyzed the mutational status of codons 12, 13, and 61 of Ha-ras, K-ras, and N- ras in peripheral blood (PB) and/or bone marrow (BM) in 34 cases of primary MDS. (ashpublications.org)

The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)

2023). Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer. (termedia.pl)

We aimed to investigate whether both RET mutations and polymorphisms contribute to phenotype of Hirschsprung's disease. (uni-luebeck.de)
Mutations were under-represented in patients with a homozygous RET c135A/A genotype in association with short-segment phenotype. (uni-luebeck.de)
conversely, a RET germline mutation on the c135G allele resulted in long-segment phenotype, particularly in heterozygous c135G/A patients. (uni-luebeck.de)
We also showed that the c135G/A polymorphism modifies the phenotype by a within-gene interaction between the c135A variant and a mutation. (uni-luebeck.de)
Our results suggest that these novel mutations play a role in the phenotype of lung cancer. (scielo.br)
A single synonymous mutation was sufficient to alter the substrate specificity of a multidrug resistance phenotype in mammalian cells [8].Synonymous mutations affect the stability of mRNA secondary structure in mammals [9]. (i-sis.org.uk)

Their detection in PB cells illustrates the potential utility of ras mutation as a clonal marker in myeloid malignancy. (ashpublications.org)
The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)

The predominant form of this condition is caused by a recessive mutation in one of the essential components of the nucleotide excision repair (NER) system, whose main function is to snip out molecular DNA lesions caused by exposure of skin epithelium to ultraviolet light. (the-scientist.com)
In contrast to the ATM mutation pattern in AT, the most frequent nucleotide changes in these sporadic lymphoid malignancies were missense mutations. (bmj.com)

11- 13 The finding of breast cancer associated mutations within the RING finger domain of BRCA1 , disrupting BRCA1/BARD1 interaction, 11, 14 and the occurrence of BARD1 missense mutations in breast cancer patients, 15- 17 implies participation of BARD1 in BRCA1 mediated tumour suppression. (bmj.com)
The presence of missense mutations in the germline of patients with B-CLL has been reported, suggesting that some patients with B-CLL may be constitutional AT heterozygotes. (bmj.com)
Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (lu.se)

HRM is a sensitive in-tube methodology to screen for mutations in clinical samples. (nih.gov)

The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor (GDNF) family of extracellular signalling molecules.RET loss of function mutations are associated with the development of Hirschsprung's disease, while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. (wikipedia.org)
Germline CHEK2 mutations have been associated with estrogen receptor (ER) positive breast cancer [22, 23]. (termedia.pl)

Mutation of the FGFR3 oncogene is an independent and favorable prognostic factor for tumor-specific survival in patients with urothelial carcinoma of the upper urinary tract]. (ox.ac.uk)
Gene sets identified with oncogene cooperativity analysis regulate in vivo growth and survival of leukemia stem cells. (rochester.edu)

Suppressor gene mutations, inherited from a parent, may underlie a certain percentage of cases of breast cancer, usually occurring at a young age and in multiple family members. (msdmanuals.com)

This is currently best expressed in the Ras "sweet-spot" model that suggests that Ras dosage (expression and signaling strength imparted by specific mutations) will be a major factor in influencing the availability of individual Ras family members to engage cancer pathways [ 4 ]. (nature.com)

A spectacular example of this approach to treatment of breast cancer is application of a poly (ADP-ribose) polymerase (PARP) inhibitor, such as olaparib, to patients with germline BRCA1 mutations [4, 5]. (termedia.pl)

Based on individual Flt3-TKD mutations, we designed patient-specific primers to perform a highly sensitive polymerase chain reaction (PCR) assay for rapid detection of minimal residual disease (MRD). (nih.gov)
In summary, we demonstrate new methodological approaches for rapid screening of Flt3 point mutations and for detection of MRD based on patient-specific Flt3-TKD mutations. (nih.gov)
The authors of a chapter in the 2020 ASCO Educational Book present the basics of the known genomic alterations in metastatic breast cancer, describe various methods of clinical detection, and then provide basic guidance on the interpretation and clinical applicability of these mutations. (medpagetoday.com)

[ 7 ] researchers identified EGFR mutations in 50.5% of surgically resected lung adenocarcinomas. (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)
Because EGFR and ALK mutations are mutually exclusive, patients with ALK rearrangements are not thought to benefit from EGFR-targeting TKIs. (medscape.com)
A new familial lung cancer caused by an inherited mutation in EGFR has been described in a study published online Oct. 23 in the Journal of Clinical Oncology. (medicalxpress.com)

Moreover, a tiny piece of chromosome 9, which carried an oncogene, had moved to the breakpoint on chromosome 22. (laskerfoundation.org)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)

Mutations at codon 12 of Ki-ras or N-ras were detected in three cases (9%): one of six cases of refractory anemia with excess blasts (RAEB) and two of nine cases of chronic myelomonocytic leukemia (CMML). (ashpublications.org)

We evaluated a new approach for rapid screening of Flt3-TKD and Flt3-V592A mutations using the fluorescence resonance energy transfer (FRET) principle in a group of 122 patients. (nih.gov)
HRM will enable high-throughput screening of gene mutations to allow appropriate therapeutic choices for patients and accelerate research aimed at identifying novel mutations in human cancer. (nih.gov)
Findings: 20 different mutations were detected in 18 patients. (uni-luebeck.de)
We also analyzed the tumor-infiltrating immune cells, immune-related gene expression, tumor mutation burden, and drug sensitivity of patients with HNSCC in the high- and low-risk groups. (frontiersin.org)
The transcriptome profiling (RNA-seq) data harmonized to fragments per kilobase million (FPKM), clinical information, and tumor mutations in patients with HNSCC were downloaded from the Cancer Genome Atlas (TCGA) database ( https://portal.gdc.cancer.gov/ ) in March 2021 ( 9 ). (frontiersin.org)
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)
The Company's technology detects and quantitates oncogene mutations in cancer patients for improved disease management. (prnewswire.com)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
However, despite the wide use of these panels in clinical practice, professional guidance on how to interpret and apply the findings of the oncogene panels for individual patients is lacking. (medpagetoday.com)
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. (lu.se)
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. (cdc.gov)
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. (cdc.gov)

Methods: We looked at the coding region of all 21 exons of the RET proto-oncogene, including the flanking intronic sequences, by direct DNA sequencing in 76 caucasians from Germany with Hirschsprung's disease. (uni-luebeck.de)

Mutation of the oncogene FGFR3 has been linked to lower stage, lower grade and favourable clinical outcome in BC. (ox.ac.uk)
They also provide a comprehensive guideline for the interpretation of mutations in breast cancer and provide information on publicly available algorithms ( OncoKB and ESCAT) that can help oncologists determine the clinical importance of potentially druggable or actionable mutations. (medpagetoday.com)

An oncogene is like a gas pedal that is stuck down, which causes the cell to divide out of control. (cancer.org)
When activated, oncogenes cause cells to grow and divide out of control. (healthline.com)

That mutation has been found in papillary thyroid carcinoma, colorectal cancer, melanoma, and non-small cell lung cancer. (news-medical.net)

These mutations are somatic and occur only in kidney cells that give rise to the tumor. (medlineplus.gov)
initially these usually occur in oncogenes. (cardiff.ac.uk)
This process is usually accurate, but spontaneous errors (mutations) occur once every 100,000 to 100 million times. (healthline.com)

We also used a model system with MonoMac-6 cells carrying the Flt3-V592A mutation to establish a mutation-specific real-time PCR approach also for this molecular aberration. (nih.gov)
We identified 9 cases (8%) of Flt3-TKD mutations (5 cases of mutation D835Y, 3 cases of mutation D835H, and 1 case of mutation Del836), and no cases of Flt3-V592A mutation. (nih.gov)
Screening for Flt3-TKD mutations with fluorescent probes is equivalent to conventional screening using standard PCR followed by EcoRV restriction. (nih.gov)
We present a real-time PCR protocol that can be used for MRD analyses based on individual Flt3-TKD mutations. (nih.gov)
Examples of MRD analyses are presented for all 3 subtypes of Flt3-TKD mutation identified in this study. (nih.gov)
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. (lu.se)

Oncogene 2007(39): 5816-21 [ PubMed abstract ]. (lu.se)

PMID:18786442 mutations and the risk of esophageal squamous cell carcinoma. (who.int)

Mutations of the BCL6 proto-oncogene disrupt its negative autoregulation in diffuse large B-cell lymphoma. (unipg.it)
Once again, mutations that disrupt this function can lead to cancer. (the-scientist.com)

The BCL6 proto-oncogene encodes a transcriptional repressor whose expression is deregulated by chromosomal translocations in approximately 40\% of diffuse large B-cell lymphomas (DLBCLs). (unipg.it)

Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)

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)

which have been linked to hereditary breast and ovarian cancer, and inheriting this mutation increases the risk of developing breast/ovarian cancer. (frontiersin.org)

Anatomy14

Organisms12

Diseases21

Chemicals and Drugs68

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Phenomena and Processes119

Disciplines and Occupations1

Information Science3

Named Groups2

Health Care4

Somatic mutations7

Genes21

KRAS20

Viral oncogene homolog6

Activating9

Tumors13

Proto-Oncogenes1

Proteins2

Genetic11

Protein13

Homolog1

Sarcoma1

Exon3

Cancers4

Oncogenic4

Point mutation1

Acute myeloid2

Therapies2

BRAF9

Gene mutation1

Presence of inactivat1

20231

Phenotype6

Malignancy2

Nucleotide2

Missense mutations3

Screen for mutations1

Receptor2

Survival2

Suppressor1

Specific mutations1

BRCA11

Detection3

EGFR5

Chromosome2

Codon 121

Patients12

Exons1

Clinical2

Divide out of cont2

Lung1

Occur3

FLT36

Abstract1

Esophageal1

Disrupt2

Encodes1

Progression1

Genetics1

Hereditary1