Verification of rare POLE and POLD1 variants predicted to be deleterious detected by WES on leukocyte DNA of glioma patients from 10 tumor families was performed by targeted sequencing. Leukocyte DNA of 28 patients with 1p/19q-codeleted oligodendrogliomas not analyzed by WES was screened for variants in all exons of POLD1 (NCBI reference sequence: {"type":"entrez-nucleotide","attrs":{"text":"NG_033800.1","term_id":"543173180","term_text":"NG_033800.1"}}NG_033800.1, {"type":"entrez-nucleotide","attrs":{"text":"NM_002691.4","term_id":"1677499772","term_text":"NM_002691.4"}}NM_002691.4). On leukocyte or tumor DNA of three glioblastoma patients who developed spinal metastases (patients M2, M3, and M4), targeted sequencing of all exons of POLE (NCBI reference sequence: {"type":"entrez-nucleotide","attrs":{"text":"NG_033840.1","term_id":"562155826","term_text":"NG_033840.1"}}NG_033840.1, {"type":"entrez-nucleotide","attrs":{"text":"NM_006231.4","term_id":"1732746256","term_text":"NM_006231.4"}}NM_006231.4) was performed. Amplicons generated using customized oligonucleotides (Additional file 1: Table S2) and standard molecular techniques were sequenced using conventional chain termination protocols on a 3130xl Genetic Analyzer (Thermo Fisher Scientific, Waltham, MA, USA) or by GATC Services (Eurofins Scientific, Luxemburg, Luxemburg). All non-silent variants were assessed with respect to MAF and pathogenicity, as described above.
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