Mutational analysis of patients. Medical search. Frequent questions

Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). (elsevierpure.com)
Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR-RFLP and direct sequencing analysis. (elsevierpure.com)
none of the patients carried homozygous or compound heterozygous mutations. (nih.gov)
The numbers of PDGFRA , BRAF , and other c-KIT mutations were too low for analysis. (springer.com)
In patients whose lung adenocarcinomas harbor epidermal growth factor receptor (EGFR) tyrosine kinase domain mutations, acquired resistance to the tyrosine kinase inhibitors (TKI) gefitinib (Iressa) and erlotinib (Tarceva) has been associated with a second-site EGFR mutation, which leads to substitution of methionine for threonine at position 790 (T790M). (aacrjournals.org)
We aimed to elucidate the frequency and nature of secondary EGFR mutations in patients with acquired resistance to TKI monotherapy. (aacrjournals.org)
Tumor cells from patients with acquired resistance were examined for secondary EGFR kinase domain mutations by molecular analyses. (aacrjournals.org)
Functional analyses of RET mutations in Chinese Hirschsprung disease patients. (medscape.com)
Objective To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. (bmj.com)
Methods A total of 451 sporadic and 55 FALS patients were screened for SOD1 mutations. (bmj.com)
Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
2 Subsequent studies have identified over 140 different SOD1 mutations in ALS patients. (bmj.com)
Mutations in SOD1 have been reported in approximately 12-23% of the patients diagnosed as having FALS and in 1-4% of patients diagnosed as having SALS. (bmj.com)
We report the frequency of SOD1 mutations in a large Dutch referral population of sporadic and familial ALS patients, and a comparison is made with other countries by reviewing studies on SOD1 mutation frequencies in populations from Europe, USA and Japan. (bmj.com)
Based on the structure, we performed integrative analysis of the cellular trafficking, protein thermostability, ATP hydrolysis, and the transport activity of representative mutations. (elifesciences.org)
The FDA has approved the programmed cell death protein-1 (PD-1) inhibitor, pembrolizumab, in solid tumors with a tumor mutational burden (TMB) ≥ 10 mutations/megabase based on the FoundationOne CDx assay. (aacrjournals.org)
In this study, 105 patients met the prespecified criteria for TMB-H [≥10 mutations (muts)/megabase (Mb) based on the FoundationOne CDx assay], and 14 participants had both TMB-H and microsatellite instability-high (MSI-H) disease. (aacrjournals.org)
On mutational analysis and FISH, neither mutations in the hot-spots nor gene amplification was observed. (bmj.com)
Progression free survival and overall survival outcomes were analyzed in patients with (m) or without functional mutations in KRAS, STK11 or KEAP1. (eurekalert.org)
These analyses include the description of new predictive biomarkers of clinical response to Vectibix, activating mutations in KRAS (beyond exon 2) and mutations in NRAS , collectively referred to as RAS . (amgen.com)
Led by Dr. Samuel Peña-Llopis, the team will target pathways associated with BAP1 mutations using cell lines, mouse models, and patient-derived tumor organoids. (uni-due.de)
To extend the epidemiological data on common gene mutations in the Chinese population and to provide appropriate genetic testing and counseling for patients with NSHI in south China, we conducted a genetic analysis in this population. (biomedcentral.com)
EGFR mutations were more frequent in females and patients that had never smoked. (spandidos-publications.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 at least 1 mutation captured by next-generation sequencing was associated with a shorter time to first treatment among patients with newly diagnosed chronic lymphocytic leukemia, particularly those with mutations in POT1, ATM, FBXW7, and MYD88 genes. (onclive.com)
The presence of at least 1 mutation captured by next-generation sequencing (NGS) was associated with a shorter time to first treatment among patients with newly diagnosed chronic lymphocytic leukemia (CLL), particularly those with mutations in POT1 , ATM , FBXW7 , and MYD88 genes, according to findings from a study that were presented during the 2021 International Workshop on CLL. (onclive.com)
Our study demonstrates that one-third of patients with Binet stage A CLL harbor somatic mutations with prognostic relevance and confirms the value of NGS for the identification of predictors of time to first treatment in early-stage CLL. (onclive.com)
6 of 20 patients with ATM mutations had 11q deletion by fluorescence in situ hybridization (FISH). (onclive.com)
Fourteen XPO1 mutations were found in 13 patients (6%) and most of them (n = 13/14) were located at E571. (onclive.com)
TP53 mutations were identified in 11 patients (5%) and occurred at the DNA-binding domain of the protein. (onclive.com)
Four of 11 patients with TP53 mutations by NGS also had a 17p deletion by FISH. (onclive.com)
POT1 mutations were seen in 12 patients (6%), all of whom except 1 had unmutated IGHV . (onclive.com)
NOTCH1 mutations were identified in 11 patients (5%), 10 of which were mutated at P2514 in the PEST domain. (onclive.com)
Nine of 11 patients who had NOTCH1 mutations also had unmutated IGHV . (onclive.com)
Notre étude a démontré que les mutations du gène HFE sont fréquentes en Égypte chez les porteurs d'une -thalassémie par rapport aux sujets témoins. (who.int)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. (lu.se)
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. (lu.se)
Identification of novel mutations in patients with Shwachman-Diamond syndrome. (lu.se)
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. (lu.se)
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. (lu.se)
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (lu.se)
A mutational signature of aristolochic acid was observed in the tumour DNA, and the principal aristolochic acid-specific mutation spectra and deleterious mutations were present in the mRNA of up to 50% of genes that were active in tumours. (who.int)

This is exemplified by a mutational signature associated with pathogenic variants in BRCA1 and BRCA2 genes 11 , 23 , thus identifying HR deficient tumors. (nature.com)
Consecutive patients with metastatic CRC who had both primary and metastatic tumors diagnosed at our institution in January 2008 through December 2016 were identified. (jnccn.org)
Immunohistochemistry was used to test the MMR status of both primary and matched metastatic tumors, and PCR analysis was performed to test MSI in patients with deficient MMR (dMMR) status. (jnccn.org)
Of the 46 patients with MSI-high primary tumors, 37 (80.4%) also had MSI-high metastatic tumors, whereas 9 (19.6%) had microsatellite stable (MSS) metastatic tumors. (jnccn.org)
Treatment planning of gastrointestinal stromal tumors (GISTs) includes distinguishing GISTs from other intra-abdominal tumors and GISTs' molecular analysis. (springer.com)
The aim of this study was to evaluate radiomics for distinguishing GISTs from other intra-abdominal tumors, and in GISTs, predict the c-KIT , PDGFRA , BRAF mutational status, and mitotic index (MI). (springer.com)
Patients diagnosed at the Erasmus MC between 2004 and 2017, with GIST or non-GIST intra-abdominal tumors and a contrast-enhanced venous-phase CT, were retrospectively included. (springer.com)
Patients from our institute between 2004 and 2017 with a histopathologically proven primary GIST or intra-abdominal tumors resembling GIST with at least a contrast-enhanced venous-phase CT prior to treatment [ 3 , 18 ] were retrospectively included. (springer.com)
In Chapter 3, we assessed the fidelity of patient-derived xenografts (PDX) as in vivo models for their corresponding oral cavity squamous cell carcinoma (OCSCC) tumors. (wustl.edu)
These analyses addressed challenges related to tumor purity and the presence of nontumor cell populations by quantifying and characterizing the microenvironmental cell populations and dynamics in primary tumors. (wustl.edu)
Over 70% of patients affected with superficial tumors will have one or more recurrences after initial treatment, and about one-third of those patients will progress and eventually succumb to their disease. (centerwatch.com)
All patients harboring tumors and scheduled to have a cystectomy, cystoscopy,or nephroureterectomy will be eligible for this study. (centerwatch.com)
High tumor mutational burden (TMB-H) has shown promise as a biomarker in lung cancer, but the broad applicability of TMB-H as a biomarker of response across all solid tumors is unclear. (aacrjournals.org)
This approval was based on an exploratory analysis of the KEYNOTE-158 study, which was a single-arm, phase II multi-cohort study of pembrolizumab for select, previously treated advanced solid tumors. (aacrjournals.org)
On June 16, 2020, the FDA approved the programmed cell death protein-1 (PD-1) inhibitor, pembrolizumab (KEYTRUDA, Merck & Co., Inc.), for the treatment of tumor mutational burden-high (TMB-H) solid tumors. (aacrjournals.org)
Patient tumors were molecularly characterized via sequencing of tumor tissue DNA and/or circulating tumor DNA samples. (eurekalert.org)
Our analysis supports using combined therapy of tremelimumab, durvalumab and chemotherapy as a potential first-line treatment option for patients with metastatic NSCLC, including those with KRASm, STK11m or KEAP1m tumors," Dr. Peters reported. (eurekalert.org)
Somatic analysis characterized mutational profiles in advanced serrated polyps/tumors, revealing a high proportion of hypermutated samples, with a prevalence of clock-like mutational signatures in most samples and the presence of DNA mismatch repair-defective signatures in some cases. (aegastro.es)
Mutational status of tumors was determined by Sanger sequencing in parallel with WAVE ® -based SURVEYOR ® Scan Kits (CRC RAS can ™ ) from Transgenomic, Inc. (TBIO). (amgen.com)
We studied the clinical features of our patients with noninvasive EFVPTC tumors culled from a community endocrine surgical practice registry over the past four years. (hindawi.com)
All these tumors were removed by a single surgeon, DNB, and had pathologic diagnoses rendered by a single pathology group serving our six-hospital consortium with a patient referral base encompassing South Florida and the Caribbean (Memorial Health Systems). (hindawi.com)

One important therapeutic avenue for oncology patients is through clinical trials. (nih.gov)
To support clinical decision-making, we have developed a data loader and mapper that connects sequence information from oncology patients to data stored in an in-house database, the JAX Clinical Knowledgebase (JAX-CKB), which can be queried readily to access comprehensive data for clinical reporting via customized reporting queries. (nih.gov)
Through this analysis, we have identified patient indications, molecular aberrations, and targeted therapy classes that have strong or weak representation in clinical trials. (nih.gov)
We identified a subset of Chronic Lymphocytic Leukemia (CLL) patients with high Signaling Lymphocytic Activation Molecule Family (SLAMF) receptor-related signaling that showed an indolent clinical course. (nature.com)
I'd like to report on an interesting article in the Journal of Clinical Oncology by Allison Betof Warner and colleagues, describing a single-institution experience, from the outstanding Memorial Sloan Kettering Cancer Center, of patients with metastatic melanoma who received single-agent programmed death-1 (PD-1) blockade. (medscape.com)
In a recent study published in The Journal of Allergy and Clinical Immunology: In Practice , De Puysseleyr and colleagues investigated the performance of the KIT D816V mutation assay in this specific group of primary mast cell disorder patients with anaphylaxis. (aaaai.org)
Here, we report a study that investigated the prevalence, features, and clinical correlation of cytogenetic and mutational characteristics of CK-AML in a cohort of 284 children with AML. (biomedcentral.com)
However, these approaches were more specifically designed to relate the mutational and gene expression landscapes to clinical and pathologic responses to treatment. (wustl.edu)
Her clinical and translational research involves design and conduction of clinical trials in patients with gastrointestinal malignancies, incorporating translational study endpoints to validate predictive and prognostic biomarkers, identify mechanisms of resistance and guide the development of rational therapeutic strategies. (tcd.ie)
Based on these findings, researchers theorized that the triplet regimen tremelimumab, durvalumab and chemotherapy may improve clinical outcomes for hard-to-treat subgroups of patients with metastatic NSCLC. (eurekalert.org)
In addition, an independent cohort of 55 clinical samples was analyzed by quantitative real-time PCR analysis. (cancerindex.org)
The results were validated both by gene expression analysis and immunohistochemistry study in an independent 55 clinical samples from Fudan University Shanghai Cancer Center. (cancerindex.org)
We have a novel checkpoint inhibitor, an anti-LAG-3, that seems to be able to give us additional improvement in clinical activity [in patients with melanoma]," Tawbi said. (onclive.com)
We identified a subgroup of patients without capsular or vascular invasion and studied their clinical characteristics. (hindawi.com)
At the time of this writing, we have not seen a clinical recurrence in any of our 37 noninvasive EFVPTC patients. (hindawi.com)
Based on our clinical, ultrasound, and fine needle aspiration biopsy cytology data, we propose an algorithm for surgical management in suspected noninvasive EFVPTC patients. (hindawi.com)
Complete clinical evaluations were performed on 701 unrelated patients with non-syndromic hearing impairment from six provinces in south China. (biomedcentral.com)
however, many patients present with metastatic disease with or without any clinical symptoms. (msdmanuals.com)
Phase study of the tumor mutational burdenTtmb mutant IDH1 inhibitor ivosidenib: Safety and clinical activity in patients with advanced chondrosarcoma. (bvsalud.org)
Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan. (lu.se)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
In the absence of pathognomonic clinical findings or a definitive laboratory test, the diagnosis of multiple sclerosis remains challenging in many patients, and diagnostic criteria emphasize the caveat of 'no better explanation' for a patient's clinical presentation and MRI findings. (medscape.com)

Despite the low incidence of somatic EGFR gene mutation and amplification in the study samples, in view of the fact that high polysomy was often identified by FISH, as well as the current lack of therapeutic options, EGFR TKIs are worth investigating for treating the patients with ATC who have at least giant cell subtype. (bmj.com)
Thirty-nine SPS patients from 16 families (≥2 patients per family) were recruited without alterations in well-known hereditary CRC genes, and germline and somatic whole-exome sequencing were performed. (aegastro.es)
Somatic mutational profiling and signature analysis was pursued in one sample per family, when possible. (aegastro.es)
Given the heterogeneity of CLL and limited understanding of the prognostic and predictive role of recurrently mutated somatic alterations in the treatment-naïve setting, investigators performed NGS to evaluate 10 targeted genes in patients with Binet stage A CLL. (onclive.com)
Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)

The primary objective of this predefined retrospective subset analysis was to determine the effect of Vectibix plus FOLFOX versus FOLFOX alone on overall survival in patients with mCRC based on RAS or BRAF mutation status. (amgen.com)
Methods: Quantitative measurements of iodine avidity in surgical specimens (primary tumour and lymph node metastases) of 28 patients were compared to immunohistochemical expression of the thyroid-stimulating hormone receptor, thyroid peroxidase (TPO), pendrin, sodium-iodide symporter (NIS) and mutational status of BRAF and the TERT promoter. (lu.se)

In the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory , Dr. Ackerman and his colleagues have research interests that include genomics, mutational analysis and novel gene discovery related to the cardiac channelopathies such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and sudden unexplained death, including sudden infant death syndrome (SIDS), and inherited sarcomere diseases such as hypertrophic cardiomyopathy. (mayo.edu)

To determine the contribution of PINK1 variants in Indian PD patients, the gene was screened in 250 patients and 205 ethnically matched controls by polymerase chain reaction, single-stranded conformation polymorphism and DNA sequencing. (nih.gov)
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. (cdc.gov)

In addition to gene expression, mutational signatures-readouts of genome instability-can characterize DNA repair deficiencies. (nature.com)

All the patients had a bone marrow biopsy. (aaaai.org)
KIT mutational analysis was performed in both blood and bone marrow. (aaaai.org)
Comparison of KIT mutational assay between blood and bone marrow examination showed that in 24 out of the 40 patients, the diagnosis of a primary mast cell disorder would have been overlooked when decision for bone marrow examination would have relied on the result of the assay in blood. (aaaai.org)
The diagnoses were based on histological, cytogenetics, and immunophenotyping analyses of bone marrow. (biomedcentral.com)
Mononuclear cells were isolated from peripheral blood in 182 patients and from bone marrow in 29 patients. (onclive.com)

THOUSAND OAKS, Calif. , May 15, 2013 /PRNewswire/ -- Amgen (NASDAQ:AMGN) today announced results from three analyses of Vectibix ® (panitumumab) in combination with FOLFOX, an oxaliplatin-based chemotherapy regimen, as a first-line treatment for metastatic colorectal cancer (mCRC). (amgen.com)
The PRIME ( P anitumumab R andomized trial I n combination with chemotherapy for M etastatic colorectal cancer to determine E fficacy) ('203) trial is a global, multicenter, randomized Phase 3 study designed to evaluate (primary endpoint of PFS) Vectibix (6.0 mg/kg every two weeks) plus FOLFOX versus FOLFOX alone in patients with wild-type KRAS exon 2 mCRC. (amgen.com)

Once again, we used genomic and transcriptomic analyses to characterize the mutational landscapes of these patient cohorts. (wustl.edu)

In a separate and updated exploratory analysis of longer follow-up of OS of the PRIME trial (primary endpoint of PFS), an improvement in OS was observed in patients with wild-type KRAS exon 2 mCRC treated with Vectibix in combination with FOLFOX. (amgen.com)

Nevertheless, the 5-year survival rate for nonmetastatic MIBC patients (75% of newly diagnosed bladder cancer) is only 36% - 48% after first-line treatment, while the 5-year relative survival is 5% - 36% in metastatic MIBC ( 3 ). (frontiersin.org)
CEST) - Patients with metastatic non-small cell lung cancer who received a combined therapy of tremelimumab, durvalumab and chemotherapy experienced longer overall survival compared with those who received chemotherapy alone, regardless of STK11, KEAP1 or KRAS mutational status, according to research from the POSEIDON trial presented at the IASLC World Conference on Lung Cancer 2022 in Vienna. (eurekalert.org)
In previously reported results of the phase 3 POSEIDON trial, patients with EGFR/ALK wild-type metastatic NSCLC who were given first-line tremelimumab, durvalumab and chemotherapy demonstrated statistically significant improvements in both progression-free survival and overall survival versus chemotherapy alone. (eurekalert.org)

The purpose of this study is to determine if analysis of DNA and protein material found in urine will be useful in the detection of urothelial cancer of the bladder and kidney. (centerwatch.com)
The remaining urine will be stored to evaluate biomarkers for the detection of tumor presence or progression using protein-based analyses. (centerwatch.com)
The EGFR gene status and protein expression were investigated by direct DNA sequencing of the hot-spot regions in exons 18, 19 and 21, fluorescence in situ hybridisation (FISH), and immunohistochemistry in tumour tissues from 23 patients with ATC. (bmj.com)
Structural and mutational analysis of the SBDS protein family. (lu.se)

We propose to assess the use of a multiple mutation-based assay, using DNA from exfoliated cells in the urine of patients, to establish the sensitivity and specificity in tumor detection compared to cystoscopy and cytology. (centerwatch.com)

Tumor mutational burden was definitely associated with CR in a multivariable analysis. (medscape.com)
Tumor Mutational Burden as a Predictor of Immunotherapy Response: Is More Always Better? (aacrjournals.org)
and higher tumor mutational burden. (bvsalud.org)

Dr. Solange Peters, Centre Hospitalier Universitaire Vaudois, Lausanne University, Switzerland and colleagues conducted an exploratory analyses of survival outcomes in POSEIDON according to KRAS, STK11 and KEAP1 mutational status. (eurekalert.org)
Overall survival hazard ratios favored patients in the tremelimumab, durvalumab and chemotherapy arm versus chemotherapy, irrespective of KRAS, STK11 or KEAP1 mutational status, consistent with results in the intent-to-treat population. (eurekalert.org)
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)
The RAS biomarkers were identified in a predefined retrospective subset analysis of the PRIME trial, where RAS was defined as exons 2, 3 and 4 of KRAS and NRAS . (amgen.com)
These results suggest that RAS mutation status beyond KRAS may be predictive of negative outcomes in patients receiving Vectibix plus FOLFOX in mCRC. (amgen.com)

These challenges further complicate analyses designed to elucidate biomarkers and mechanisms associated with treatment response. (wustl.edu)
There is a significant unmet need for predictive biomarkers that can reliably identify patients who derive a clinically meaningful response from PD-1/PD-L1 blockade. (aacrjournals.org)
The identification of new biomarkers may further help to identify appropriate patients with this incurable disease for such treatment. (amgen.com)

Replication analyses across independent drug and CRISPR genetic screening data sets reveal hundreds of robust associations, which are provided as a resource for drug repurposing guided by mutational signature markers. (nature.com)
In essence, the research is enabling true personalized/individualized medicine for patients and families with genetic heart rhythm and genetic heart muscle diseases. (mayo.edu)
Comprehensive genetic analysis of deaf patients in different regions of China must be performed to provide effective genetic counseling. (biomedcentral.com)
To evaluate the mutational spectrum of south Chinese families, we performed genetic analysis for non-syndromic hearing impairment in this population. (biomedcentral.com)
Our study is the first genetic analysis of non-syndromic hearing impairment in south China, and revealed that a clear genetic etiology accounted for 32.0% of non-syndromic hearing cases in patients from these regions. (biomedcentral.com)
The mutational spectrum of non-syndromic hearing impairment in the south Chinese population provides useful and targeted information to aid in genetic counseling. (biomedcentral.com)
The rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1. (cancerindex.org)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

Due to the advancement of genomic analysis, a vast literature characterizing cancer-associated molecular aberrations and relative therapeutic relevance has been published. (nih.gov)
Because cancer therapeutics often target DNA synthesis or repair, we asked if mutational signatures make useful markers of drug sensitivity. (nature.com)
We detect mutational signatures in cancer cell line exomes (where matched healthy tissues are not available) by adjusting for the confounding germline mutation spectra across ancestries. (nature.com)
Because mutational signatures describe the state of the DNA repair machinery of a cancer cell, they may be able to serve as a drug sensitivity marker. (nature.com)
2004) Akt phosphorylation and gefitinib efficacy in patients with advanced non-small-cell lung cancer. (scielo.br)
The cancer assays to be tested use DNA analysis and antibodies to specific proteins as well as functional assays for proteins to attempt to identify bladder tumor presence. (centerwatch.com)
It is important to know whether other changes, including kidney stones, cystitis etc. cause the release of the same DNA or proteins into the urine as was found in cancer patients. (centerwatch.com)
For non-muscle invasive bladder cancer (NMIBC), Bacille Calmette-Guerin (BCG) treatment is the standard immunotherapy for non-high risk NMIBC patients ( 3 ). (frontiersin.org)
However, most NMIBC patients will experience recurrence within 5 years, and a portion of patients will develop muscle-invasive bladder cancer (MIBC). (frontiersin.org)
Establishing these novel models may influence CHD research in multiple ways including 1) benefiting investigators in this largely underexplored area of research, 2) improving the quality and acceptance of CHD research data, and 3) improving validation and commercialization of cancer therapeutics relevant to diverse patient populations. (sbir.gov)
Anti-PD-1 antibodies have changed the way that we treat patients with cancer. (onclive.com)
To support the new nomenclature, the working group validated the name change with a review of 210 retrospectively collected EFVPTC-diagnosed patients, reclassifying 103 of them as NIFTP patients, in whom not one had evidence for thyroid cancer recurrence over 10-26 years of follow-up [ 4 ]. (hindawi.com)
Assessment of the epidermal growth factor receptor (EGFR) mutational status has become crucial in recent years in the molecular classification of patients with lung cancer. (spandidos-publications.com)
This microRNA signature may be relevant for secondary and tertiary cancer prevention, because of its potential as a non-invasive biomarker to enable screening and monitoring of the urinary tracts of patients with aristolochic acid-associated nephropathy for cancer formation as well as recurrence. (who.int)

The projects described in this dissertation begin by characterizing the mutational landscape across tumor cohorts, followed by more in depth analyses of their expression landscapes. (wustl.edu)

Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)

A patient group of age-matched controls will be recruited from the aforementioned patient populations requiring a single urine donation at the time of their scheduled clinic visit. (centerwatch.com)
Therefore, this study filtered candidate antigens and specific mRNA-suitable populations in BLCA via comprehensive multi-omics analysis. (frontiersin.org)
AP2S1 , P3H4 , and RAC3 were identified as candidate tumor-specific antigens, and patients with the BCS2 and BCS1A subtypes were identified as candidate populations for mRNA vaccines. (frontiersin.org)
Solicited models include patient-derived cell lines, patient-derived xenograft (PDX) mouse models, and 3D human tissue model culture systems established from racially/ethnically diverse patient populations. (sbir.gov)
Therefore, the establishment of a specific mutational database for different regional populations is indispensable. (biomedcentral.com)

Our findings shed light on the cytogenetic and mutational profile of childhood CK-AML and would inform refinement of risk stratification in childhood AML to improve outcomes. (biomedcentral.com)
Amgen is working to inform investigators and physicians of this important new safety information, as well as working with regulatory agencies regarding appropriate communication of the outcomes of this analysis. (amgen.com)
Time to first treatment has recently emerged as an important end point for untreated CLL patients, able to identify early drivers of disease which may be masked when investigating long-term and treatment-defined outcomes, such as progression-free survival and overall survival," lead study author Caterina Cristinelli, MD, of the Department of Molecular Medicine at the University of Pavia in Pavia, Italy, and coauthors wrote in the poster presentation. (onclive.com)

In addition, the scientists identified a subset of urine-based microRNAs that were consistently more abundant in the patients' urine before tumour resection. (who.int)

The majority of patients who went on to other therapy stopped because of toxicity or progression. (medscape.com)
It is exciting] that we can give [this option] to our patients without the added [cost of toxicity]. (onclive.com)

Here, we describe the development and disseminate system methods for associating patient genomic sequence data with clinically relevant information, facilitating interpretation and providing a mechanism for informing therapeutic decision-making. (nih.gov)

A very important question for academicians and practicing oncologists is: What do you do if a patient has had single-agent PD-1 blockade and does well for a period of time but then progresses and requires second-line therapy? (medscape.com)
A total of 78 patients were described who did require further therapy after PD-1 blockade failed. (medscape.com)
Of the 34 patients who [received further therapy with] single-agent PD-1 blockade alone, there were only five responders (15% response rate). (medscape.com)
But again, if patients progress or are progressing on single-agent PD-1 blockade, the likelihood of re-responding to PD-1 blockade is not high. (medscape.com)

Weighted gene co-expression network analysis (WGCNA) was used to identify key genes for mRNA vaccines. (frontiersin.org)
The current study identified twenty prognostic immune genes for CRC patients and constructed an immune-related regulatory network. (biomedcentral.com)
Genes in the selected module were chosen to construct the m5Cscore scoring system for evaluating m5C modification pattern in individual OSCC patients . (bvsalud.org)
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (cdc.gov)

The researchers applied an integrative multi-omics analysis of upper urinary tract urothelial carcinomas arising in the context of nephropathy linked to environmental exposure to the herbal carcinogen aristolochic acid. (who.int)

Diagnostic and prognostic values were assessed by Kaplan-Meier Plotter, Cox regression analysis, and ROC curve. (medsci.org)
Regression analysis. (lu.se)
Regression analysis was used to identify independent predictors of poor iodine avidity. (lu.se)

To investigate the prevalence of EGFR overexpression, gene amplification and activating mutation in the tyrosine kinase domain in patients with ATC. (bmj.com)
The aim of the present study was to investigate the impact of tissue type and content of neoplastic cells in the specimen on the quality of EGFR mutation analysis among patients with lung adenocarcinoma. (spandidos-publications.com)

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. (cdc.gov)

The RNA Methylation Modification 5-Methylcytosine Impacts Immunity Characteristics, Prognosis and Progression of Oral Squamous Cell Carcinoma by Bioinformatics Analysis. (bvsalud.org)

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. (medscape.com)
Immediately after the diverting colostomy is created or a definitive pull-through procedure is performed, patients often remain on broad-spectrum intravenous antibiotics (eg, ampicillin, gentamicin, and metronidazole) until bowel function has returned and feeding goals are achieved. (medscape.com)

We studied the prevalence, cytogenetic and mutational features, and outcome impact of CK in a cohort of 284 Chinese children with de novo AML. (biomedcentral.com)
Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia. (nih.gov)

Results All five patients with granular dystrophy had the R555W mutation, and H626P was identified in an intermediate dystrophy of Bowman layer pedigree. (bmj.com)
Results One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. (bmj.com)

A total of 284 patients (≤ 18 years old) with de novo AML were enrolled in the study between 2007 and 2018 at Children's Hospital of Chongqing Medical University in China. (biomedcentral.com)

The immune landscapes of each patient were visualized and revealed the heterogeneity within the BCS1 subtype. (frontiersin.org)
Due to the huge heterogeneity of prognosis in CRC patients, a single biomarker was not enough to provide accurate prognostic information for CRC patients. (biomedcentral.com)

Mutational prevalence was low and co-occurrence mutants were uncommon. (biomedcentral.com)

College of Wisconsin, current era from 28 patients with septal defects who factor HEY2 in formalin fixed tissue taken from a Milwaukee, Wisconsin, USA underwent cardiac surgery and who were enrolled in our collection of hearts with atrial septal defects congenital heart disease tissue bank. (cdc.gov)

In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. (elsevierpure.com)
the JAK2 mutation, the presence of the mutation has become an important diagnostic criterion for identifying patients with PV and for reducing the potential for misdiagnosis of persons with elevated red blood cell counts. (cdc.gov)

A non-invasive and quicker method may aid in the early assessment of GISTs, allowing rapid transfer of such patients to specialized treatment centers. (springer.com)

Around the world, scientists have been trying to find the first case of SARS-CoV-2 infection or "patient zero" to understand how the novel coronavirus may have jumped from an animal host to infect the first human, as well as the history of how the SARS-CoV-2 viral genome mutated over time and spread globally. (isaaa.org)
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. (medscape.com)

Shear wave elastography for differentiation of benign and malignant thyroid nodules: a meta-analysis. (thyroid.org)
Tall cell variant of papillary thyroid microcarcinoma: clinicopathologic features with BRAFV600E mutational analysis. (thyroid.org)

Through data analysis, a study has provided new insights into the early mutational history of SARS-CoV-2 . (isaaa.org)
In a study of 259 consecutive patients, Menezes and colleagues reported that 57% of patients presented with intestinal obstruction, 30% with constipation, 11% with enterocolitis, and 2% with intestinal perforation. (medscape.com)
The current study performed differentially expressed analyses between normal tissues and tumor tissues. (biomedcentral.com)
In a separate predefined secondary objective subset analysis of the PEAK study, patients with wild-type RAS mCRC treated with Vectibix in combination with FOLFOX had a median PFS of 13.1 months compared to 9.5 months (HR = 0.63, 95 percent CI, 0.43-0.94) for patients treated with bevacizumab in combination with FOLFOX. (amgen.com)
A total of 515 patients with histologically‑confirmed disease were included in the present study. (spandidos-publications.com)

In this exploratory analysis, patients with wild-type RAS mCRC who were administered Vectibix in combination with FOLFOX demonstrated an improvement in median overall survival (OS) of 26.0 months compared to 20.2 months for patients treated with FOLFOX alone (HR = 0.78, 95 percent CI, 0.62-0.99). (amgen.com)

We sequenced the coding regions surrounding YXXM motifs of IRS1 using tumor samples of 42 NSCLC patients and 40 matching controls and found heterozygote p.S668T mutation in nine of 42 samples and four of nine also had the p.D674H mutation. (scielo.br)
Although advanced treatments including targeted therapy and immunotherapy have developed, such as Crizotinib, Osimertinib, Pembrolizumab, and Atezolizumab, the 5-year overall survival rate of patients with NSCLC is still less than 20% [ 2 ]. (medsci.org)

They found the proCoV2 virus and its initial descendants arose in China and that a population of strains with as many as six mutational differences from proCoV2 existed at the time of the first detection of COVID-19 cases in China . (isaaa.org)
Another sizable contingent of investigators and practitioners favor a different approach (originally published in 2011, newly termed here as "consensus-2"), resembling "consensus-1" in some respects but differing in others, leading to substantial differences between these proposals in the numbers of patients qualifying for diagnosis (and thus treatment). (degruyter.com)

We know that the combination of CTLA-4 and PD-1 is very effective and improves overall survival [OS] in patients with melanoma. (onclive.com)
Survival analysis showed high STARD12 expression was associated with favorable overall survival, disease special survival as well as disease free survival, while STARD14 showed the opposite. (medsci.org)
The overall survival rate and progression-free survival rate were markedly worse and the tumor recurrence rate was higher in OSCC patients with a high m5Cscore. (bvsalud.org)

Patients with mutant RAS tumor status had inferior progression-free survival (PFS) (HR = 1.34, 95 percent CI, 1.07-1.60) and OS (HR = 1.25, 95 percent CI, 1.02-1.55) when administered Vectibix in combination with FOLFOX chemotherapy versus FOLFOX alone. (amgen.com)

Treatment decisions are also based on the GISTs' mutational status. (springer.com)
However, a comprehensive analysis of which factors best predict iodine avidity status, and the magnitude of their impact, is lacking. (lu.se)

A high concordance was found in patients with liver, lung, or distant lymph node metastases. (jnccn.org)
These data have been combined with previously published LNET data to perform integrative analysis using multi-omics factor analysis (MOFA), resulting in a molecular map of lung neuroendocrine neoplasms for exploration. (who.int)

In the work presented here, we provide compelling data that SLAMF1 and SLAMF7 receptors may not only enhance immune control of CLL but also negatively regulate BCR signaling and thereby impact sensitivity towards BTK inhibition in the substantial fraction of patients with SLAMF1 or SLAMF7 expressing M-CLL. (nature.com)
Consensus clustering analysis was performed to identify immune subtypes using the ConsensusClusterPlus package. (frontiersin.org)
The Monocle package was used to visualize the immune landscapes of each BLCA patient. (frontiersin.org)
Patients with the BCS2 subtype were characterized as immune "cold" and exhibited upregulation of immunogenic cell death modulators, whereas patients with BCS1 and BCS3 were immune "hot" and had upregulation of immune checkpoints. (frontiersin.org)

Precision medicine in oncology relies on rapid associations between patient-specific variations and targeted therapeutic efficacy. (nih.gov)

The impact of the type and quantity of malignant cells of the neoplastic specimen on the quality of mutation analysis remains to be elucidated, and only empirical and sporadic data are available. (spandidos-publications.com)
Formalin‑fixed paraffin embedded tissue samples were used for the mutation analysis and the content of the neoplastic cells was evaluated using light microscopy. (spandidos-publications.com)
Targeted mutation analysis was performed with a Truseq Custom Amplicon panel. (onclive.com)
Mutation analysis of SBDS in pediatric acute myeloblastic leukemia. (lu.se)

We use it widely, especially in patients with brain metastases, and in other settings. (onclive.com)

GSEA analysis found STARD12 and STARD14 were associated with glycolysis, oxidative phosphorylation and tumor related signaling pathways. (medsci.org)

Anatomy13

Organisms18

Diseases2

Chemicals and Drugs99

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Phenomena and Processes101

Technology, Industry, Agriculture1

Information Science4

Health Care1

Mutations44

Tumors21

Clinical24

Somatic5

BRAF2

Genomics1

Variants2

Gene expression1

Bone marrow5

Colorectal cancer2

Characterize1

Exon1

Metastatic3

Protein4

Assay1

Burden3

KRAS5

Biomarkers3

Genetic8

Cancer14

Cohorts1

Germline1

Populations5

Outcomes3

Tumour1

Toxicity2

Methods1

Blockade4

Genes4

Multi-omics analysis1

Regression3

EGFR2

Nonsyndromic1

Characteristics1

Spectrum2

Cohort2

Results2

20181

Heterogeneity2

Prevalence1

Congenital1

Diagnostic2

Assessment1

Genome2

Thyroid2

Study5

Exploratory analysis1

NSCLC2

Differences2

Overall survival3

Mutant1

Status2

Lung2

Immune4

Precision Medicine1

Mutation analysis4

Metastases1

Phosphorylation1