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Article

Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.

Critical reviews in oncology/hematology - 1 Jan 2025

Bozsik Anikó, Butz Henriett, Grolmusz Vince Kornél, Pócza Tímea, Patócs Attila, Papp János

Abstract excerpt

PURPOSE: Despite the widespread use of high-throughput genotyping strategies, certain mutation types remain understudied. We provide an overview of these often overlooked mutation types, with representative examples from common hereditary cancer syndromes. METHODS: We conducted a comprehensive review of the literature and locus-specific variant databases to summarize the germline pathogenic variants discovered...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39528122
DOI: 10.1016/j.critrevonc.2024.104549

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