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Whole-Exome Analysis and Osteosarcoma: A Game Still Open.
Int J Mol Sci
December 2024
Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, 04100 Latina, Italy.
Osteosarcoma (OS) is the most prevalent malignant bone tumor in adolescents and young adults. OS cells grow in a permissive local microenvironment which modulates their behavior and facilitates all steps in tumor development (e.g.
View Article and Find Full Text PDFUnveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Int J Mol Sci
December 2024
Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.
This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the gene linked to neurosensorial hearing loss.
View Article and Find Full Text PDFWhole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma-A Pilot Study.
Int J Mol Sci
December 2024
Department of Hematology and Oncology, University Medical Center Schleswig-Holstein (UKSH), University Cancer Center Schleswig-Holstein (UCCSH), Campus Lübeck, 23538 Lübeck, Germany.
The complex and heterogeneous genomic landscape of multiple myeloma (MM) and many of its clinical and prognostic implications remains to be understood. In other cancers, such as breast cancer, using whole-exome sequencing (WES) and molecular signatures in clinical practice has revolutionized classification, prognostic prediction, and patient management. However, such integration is still in its early stages in MM.
View Article and Find Full Text PDFEnhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.
Int J Mol Sci
December 2024
Bioinformatics Analysis Team, Research Core Center, Research Institute, National Cancer Center, Goyang 10408, Gyeonggi-do, Republic of Korea.
The cost-effectiveness of whole exome sequencing (WES) remains controversial due to variant call variability, necessitating sensitivity and specificity evaluation. WES was performed by three companies (AA, BB, and CC) using reference standards composed of DNA from hydatidiform mole and individual blood at various ratios. Sensitivity was assessed by the detection rate of null-homozygote (N-H) alleles at expected variant allelic fractions, while false positive (FP) errors were counted for unexpected alleles.
View Article and Find Full Text PDFPancreatic Neuroendocrine Tumor: The Case Report of a Patient with Germline Mutation and Tumor Analysis Using Single-Cell RNA Sequencing.
J Clin Med
December 2024
Moscow Clinical Scientific Center N.A. A.S. Loginov, Moscow 111123, Russia.
Unlabelled: Neuroendocrine neoplasms are a rare and heterogeneous group of neoplasms. Small-sized (≤2 cm) pancreatic neuroendocrine tumors (PanNETs) are of particular interest as they are often associated with aggressive behavior, with no specific prognostic or progression markers.
Methods: This article describes a clinical case characterized by a progressive growth of nonfunctional PanNET requiring surgical treatment in a patient with a germline mutation, previously not reported in PanNETs.
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