Aasem Abu Shtaya, Inbal Kedar, Samar Mattar, Ahmad Mahamid, Lina Basel-Salmon, Sarit Farage Barhom, Sofia Naftaly Nathan, Nurit Magal, Noy Azulay, Michal Levy Zalcberg, Rakefet Chen-Shtoyerman, Ori Segol, Mor Seri, Gili Reznick Levi, Shiri Shkedi-Rafid, Chana Vinkler, Iris Netzer, Ofir Hagari Bechar, Liat Chamma, Sari Liberman, Yael Goldberg
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 cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020-January 2023. Those with a known familial PV (n = 370) were excluded from the analysis...
December 24, 2023: Cancers