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Glucagon-Producing Pancreatic Neuroendocrine Tumors (Glucagonomas) are Enriched in Aggressive Neoplasms with ARX and PDX1 Co-expression, DAXX/ATRX Mutations, and ALT (Alternative Lengthening of Telomeres).
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Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Piazzale L.A. Scuro, 10, 37134, Verona, Italy.
Article Synopsis
- Glucagonomas are special tumors in the pancreas that cause a syndrome and were studied in six patients to understand their features better.
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Pan-Cancer Interrogation of Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.
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Purpose: Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene predispose to colorectal cancer (CRC) and other cancers. The possible association of heterozygous variants with broader cancer susceptibility remains uncertain. This study investigated the prevalence and consequences of pathogenic variants and loss of heterozygosity (LOH) in a large pan-cancer analysis.
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Molecular genetic analysis is an integral part of colorectal cancer (CRC) management. The choice of systemic therapy for CRC is largely based on the results of tumor molecular testing. Evaluation of the and gene status is mandatory for consideration of anti-epidermal growth factor receptor (EGFR) therapy.
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Medical Genetics, University of Siena, Siena, Italy.
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines.
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