The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup. Understanding the concepts of gene-based testing and integrating into current surgical practice is crucial. This review addresses common genetic syndromes, tests, and interventions salient to the current surgeon.
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http://dx.doi.org/10.21037/atm.2017.06.50 | DOI Listing |
Targeted therapy has emerged as a promising option in cancer treatment, driven by advances in the understanding of DNA changes and the molecular basis of cancer. This article provides an overview of next-generation sequencing and types of genetic alterations, common cancer biomarkers, a review of circulating tumor DNA testing and its applications for oncology treatments, how to read a genomic testing report, examples of targeted therapy for cancer pathologic variants and tumor markers, and the implications for nursing practice in this emerging field.
View Article and Find Full Text PDFQJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Microbiol Spectr
January 2025
Department of Laboratory Medicine, National University Hospital, Singapore, Singapore.
Unlabelled: The complex (MAC) is a common causative agent causing nontuberculous mycobacterial (NTM) pulmonary disease worldwide. Whole-genome sequencing was performed on a total of 203 retrospective MAC isolates from respiratory specimens. Phylogenomic analysis identified eight subspecies and species.
View Article and Find Full Text PDFMicrobiol Spectr
January 2025
Department of Biology, Appalachian State University, Boone, North Carolina, USA.
Unlabelled: Testing for the causative agent of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been crucial in tracking disease spread and informing public health decisions. Wastewater-based epidemiology has helped to alleviate some of the strain of testing through broader, population-level surveillance, and has been applied widely on college campuses. However, questions remain about the impact of various sampling methods, target types, environmental factors, and infrastructure variables on SARS-CoV-2 detection.
View Article and Find Full Text PDFCells
December 2024
Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH, University Hospital Aachen, D-52074 Aachen, Germany.
The Rat-1 cell line was established as a subclone of the parental rat fibroblastoid line F2408, derived from Fisher 344 rat embryos. Rat-1 cells are widely used in various research fields, especially in cancer biology, to study the effects of oncogenes on cell proliferation. They are also crucial for investigating signal transduction pathways and play a key role in drug testing and pharmacological studies due to their rapid proliferation.
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