The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort

Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with...

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Published in:Cancers 2023-12, Vol.16 (1), p.94
Main Authors: Abu Shtaya, Aasem, Kedar, Inbal, Mattar, Samar, Mahamid, Ahmad, Basel-Salmon, Lina, Farage Barhom, Sarit, Naftaly Nathan, Sofia, Magal, Nurit, Azulay, Noy, Levy Zalcberg, Michal, Chen-Shtoyerman, Rakefet, Segol, Ori, Seri, Mor, Reznick Levi, Gili, Shkedi-Rafid, Shiri, Vinkler, Chana, Netzer, Iris, Hagari Bechar, Ofir, Chamma, Liat, Liberman, Sari, Goldberg, Yael
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Language:English
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