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This review provides an overview of clinically useful applications of a next-generation sequencing (NGS)-based multi-gene panel testing strategy in the areas of oncology, hereditary tumor syndromes, and hematology. In the case of solid tumors (e.g. lung carcinoma, colon-rectal carcinoma), the detection of somatic mutations contributes not only to a better diagnostic but also therapeutic stratification of those affected. The increasing genetic complexity of hereditary tumor syndromes (e.g. breast and ovarian carcinoma, lynch syndrome/polyposis) requires a multi-gene panel analysis of germline mutations in affected families. Another useful indication for a multi-gene panel diagnostics and prognosis assessment are acute and chronic myeloid diseases. The criteria of the WHO-classification and the European LeukemiaNet-prognosis system for acute myeloid leukemia can only be met by a multi-gene panel test strategy.
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http://dx.doi.org/10.1055/a-2033-5329 | DOI Listing |
Fam Cancer
September 2025
Ambry Genetics, 1 Enterprise, Aliso Viejo, CA, 92656, USA.
Pathogenic variants in the APC gene are classically associated with autosomal dominant familial adenomatous polyposis (FAP), characterized by tens-to-thousands of colonic adenomatous polyps and a high-penetrance predisposition to colorectal cancer. More recently, specific PVs in the YY1 binding motif of APC promoter 1B have been associated with autosomal dominant gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), characterized by tens-to-thousands of fundic gland polyps and a predisposition to gastric cancer but which are only rarely associated with features consistent with FAP. Although management guidelines currently treat FAP and GAPPS as mutually exclusive conditions, the extent of phenotypic overlap is not well-characterized.
View Article and Find Full Text PDFEpilepsia Open
August 2025
Program in Genetic Counseling, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Objective: In 2022, the National Society of Genetic Counselors (NSGC) published a practice guideline for genetic testing and counseling for unexplained epilepsy. It is endorsed by the American Epilepsy Society and recommends genetic testing for all patients with unexplained epilepsy (prioritizing exome/genome sequencing [ES/GS] or multi-gene panel [MGP] as first-tier testing) and providing professional pre-/post-test counseling. This study investigates the alignment of neurologists' practice with this guideline and identifies barriers to implementation.
View Article and Find Full Text PDFFront Oncol
August 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Objective: This study aimed to identify tumor-derived DNA in Papanicolaou (Pap) smears and plasma specimens from patients with endometrial cancer or endometrial intraepithelial neoplasia (EC/EIN).
Methods: Tumor tissue, peripheral blood, and Pap smear samples were collected from 84 patients with EC and EIN. Somatic mutations in tumor specimens were analyzed using targeted exome sequencing with a 363-cancer-related gene panel.
Rev Assoc Med Bras (1992)
August 2025
Diagnósticos da América S.A.- São Paulo (SP), Brazil.
Objective: This study aimed to evaluate whether the increased use of exome sequencing as a primary next-generation sequencing test provides a higher diagnostic yield compared to multi-gene panels for various clinical indications within a Brazilian cohort.
Methods: We retrospectively analyzed test results from 3,025 patients who underwent single-gene tests, multi-gene panels, and exome sequencing in our laboratory. The results were categorized as positive, inconclusive, or negative, with clinical indications including neurodevelopmental, late-onset neurological, neuromuscular, syndromic, skin/hair, hematological/immunologic, ophthalmologic, inborn errors of metabolism, skeletal, cardiovascular, reproductive planning, cancer, genitourinary, gastrointestinal, and hearing disorders.
Mol Cytogenet
August 2025
Department of Medical Genetics and Genomics, School of Medicine, Sapporo Medical University, 1 West 17, Chuo-ku, Sapporo, 060-8556, Japan.
Unlabelled: Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in (), which encodes serine/threonine kinase 11, have been identified as the major cause of Peutz–Jeghers syndrome. Here, we detected a rare variant of undetermined significance in intron 2 of using multi-gene panel analysis in a girl with clinically suspected Peutz–Jeghers syndrome.
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