Longitudinal Relationship between Idylla Plasma ct BRAF V600 Mutation Detection and Tumor Burden in Patients with Metastatic Melanoma
ConclusionsOverall, interim ctDNA results provided evidence of partial response or progressive disease an average of 82 days before radiography. This pilot study supports the feasibility of using the Idylla plasmaBRAF V600 ctDNA assay as a complement to CT scanning for routine monitoring of therapeutic response. Somatic mutation quantification based on Cq values shows promise for identifying disease progression and warrants further validation. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 10, 2021 Category: Molecular Biology Source Type: research
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center ’s Experience Over 5 Years
ConclusionsOur study, which comprises over than 4000 probands, is one of most important cohorts reported in inherited cardiac diseases. The global mutation detection rate would be significantly increased by determining the putative pathogenicity of the large number of variants of uncertain significance. Identification of"unexpected" variants also showed the clinical utility of genetic testing in inherited cardiac diseases as they can redirect clinical management and medical resources toward a meaningful precision medicine. In cases with negative result, a WGS approach could be considered, but would probably have ...
Source: Molecular Diagnosis and Therapy - May 5, 2021 Category: Molecular Biology Source Type: research
Correction to: System-Wide Pollution of Biomedical Data: Consequence of the Search for Hub Genes of Hepatocellular Carcinoma Without Spatiotemporal Consideration
The article System-Wide Pollution of Biomedical Data: Consequence of the Search for Hub Genes of Hepatocellular Carcinoma Without Spatiotemporal Consideration written by Ankush Sharma, Giovanni Colonna, was originally published online on 21 January 2021 with Open Access under “Creative Commons Attribution Non-Commercial (CC B Y-NC 4.0)”. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 5, 2021 Category: Molecular Biology Source Type: research
Serum Levels of miR-146a in Patients with Psoriasis
ConclusionCirculating miR-146a levels were upregulated in patients with psoriasis, especially in those with active disease. To the best of our knowledge, this is the largest study with a homogenous psoriasis population, and our data could shed light on the pathogenesis of psoriasis, paving the way for new avenues for disease treatment. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 2, 2021 Category: Molecular Biology Source Type: research
The Road Ahead for Circulating microRNAs in Diagnosis and Management of Testicular Germ Cell Tumors
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 24, 2021 Category: Molecular Biology Source Type: research
The Diagnostic Accuracy of miR-371a-3p for Testicular Germ Cell Tumors: A Systematic Review and Meta-Analysis
ConclusionsMiR-371a-3p represents a viable biomarker associated with testicular germ cell tumors. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 22, 2021 Category: Molecular Biology Source Type: research
Omics in Seminal Plasma: An Effective Strategy for Predicting Sperm Retrieval Outcome in Non-obstructive Azoospermia
AbstractNon-obstructive azoospermia (NOA) is a severe form of male factor infertility resulting from the impairment of sperm production. Surgical sperm retrieval followed by intracytoplasmic sperm injection (ICSI) is the only alternative for NOA patients to have their own genetic children. Nevertheless, due to an approximately 50% chance of success, harvesting sperm from these patients remains challenging. Thus, discovering noninvasive biomarkers, which are able to reliably predict the probability of sperm acquisition, not only can eliminate the risk of surgery but also can lower the costs of NOA diagnosis and treatment. S...
Source: Molecular Diagnosis and Therapy - April 15, 2021 Category: Molecular Biology Source Type: research
BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
ConclusionBoBs assay can rapidly detect microdeletion and microduplication syndromes, which compensates the shortcomings of conventional chromosomal karyotyping and greatly improves the efficiency and accuracy of prenatal diagnosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 7, 2021 Category: Molecular Biology Source Type: research
Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage
ConclusionsAlthough conventional karyotyping and FISH are still needed, SNP-array represents the first choice for miscarriage because the technique showed excellent performance in the detection of genetic abnormalities and minimized the probability of testing failure as well as time, costs, and labor. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 1, 2021 Category: Molecular Biology Source Type: research
Immuno-Oncolytic Viruses: Emerging Options in the Treatment of Colorectal Cancer
AbstractColorectal cancer is the third most common neoplasm in the world and the third leading cause of cancer-related deaths in the USA. A safer and more effective therapeutic intervention against this malignant carcinoma is called for given the limitations and toxicities associated with the currently available treatment modalities. Immuno-oncolytic or oncolytic virotherapy, the use of viruses to selectively or preferentially kill cancer cells, has emerged as a potential anticancer treatment modality. Oncolytic viruses act as double-edged swords against the tumors through the direct cytolysis of cancer cells and the induc...
Source: Molecular Diagnosis and Therapy - March 12, 2021 Category: Molecular Biology Source Type: research
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns
ConclusionsWe have successfully genotyped 13 infants diagnosed with classical congenital adrenal hyperplasia after birth. Our molecular approach led to the identification of two novel frameshiftCYP21A2 pathogenic variants related to the salt-wasting form of congenital adrenal hyperplasia. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 12, 2021 Category: Molecular Biology Source Type: research
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis
ConclusionDetection of clinically relevant variants with the Oncomine Myeloid Research NGS assay can be significantly improved by supplementing the default filter chain with custom data filtering or the recently launched Oncomine 5.14 extended filter algorithm. Our accessory fragment analysis facilitates easy testing for frequentASXL1 mutations that are poorly or not covered by the NGS assay. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 9, 2021 Category: Molecular Biology Source Type: research
Predictive Value of EGFR-PI3K-AKT-mTOR-Pathway Inhibitor Biomarkers for Head and Neck Squamous Cell Carcinoma: A Systematic Review
ConclusionSeveral EGFR-PI3K-AKT-mTOR-pathway inhibitor biomarkers have been researched for HNSCC but few of the investigated biomarkers have been adequately confirmed in clinical trials. A more systematic approach is needed to discover proper biomarkers as stratifying patients is essential to prevent unnecessary costs and side effects. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 8, 2021 Category: Molecular Biology Source Type: research
Routine Molecular Screening of Patients with Advanced Non-SmallCell Lung Cancer in Circulating Cell-Free DNA at Diagnosis and During Progression Using OncoBEAM TM EGFR V2 and NGS Technologies
ConclusionsThe OncoBEAMTMEGFR V2 is a sensitive, robust, and accurate assay that delivers reproducible results. Next-generation sequencing and BEAMing technologies act complementarily in the routine molecular screening. We show that using a next-generation sequencing assay, despite its lower sensitivity, enables the identification of rareEGFR alterations or resistance mechanisms (mutation, deletion, insertion, and copy number variation) to orient first- and second-line treatments. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 3, 2021 Category: Molecular Biology Source Type: research
Current and Emerging Clinical Treatment in Mitochondrial Disease
AbstractPrimary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the most prevalent inborn errors of metabolism, it often exhibits marked phenotypic variation and can therefore be difficult to recognise. Current treatment for PMD revolves around supportive and preventive approaches, with few disease-specific therapies available. However, over the last decade there has been considerable progress in our understanding of both the genetics and pathophysiology of PMD. This has resulted in the development of a ple...
Source: Molecular Diagnosis and Therapy - March 1, 2021 Category: Molecular Biology Source Type: research
