Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process.
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http://dx.doi.org/10.6004/jnccn.2014.0128 | DOI Listing |
J Cancer Res Ther
December 2024
Department of Oncology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, P.R. China.
Background: Cryoablation induces antitumor immune responses. Spatial transcriptomic landscape technology has been used to determine the micron-level panoramic transcriptomics of tissue slices in situ.
Methods: The effects of cryoablation on the immune microenvironment in non-small cell lung cancer (NSCLC) were explored by comparing the Whole Transcriptome Atlas (WTA) panel of immune cells before and after cryoablation using the spatial transcriptomic landscape.
Lung Cancer
January 2025
Internal Medicine III, Wakayama Medical University, Wakayama, Japan.
Objectives: The lack of definitive biomarkers presents a significant challenge for chemo-immunotherapy in extensive-stage small-cell lung cancer (ES-SCLC). We aimed to identify key genes associated with chemo-immunotherapy efficacy in ES-SCLC through comprehensive gene expression analysis using machine learning (ML).
Methods: A prospective multicenter cohort of patients with ES-SCLC who received first-line chemo-immunotherapy was analyzed.
JCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
J Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
Hum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
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