Somatic TP53 variants frequently confound germ-line testing results

Purpose Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (AC...

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Veröffentlicht in:	Genetics in medicine 2018-08, Vol.20 (8), p.809-816
Hauptverfasser:	Weitzel, Jeffrey N, Chao, Elizabeth C, Nehoray, Bita, Van Tongeren, Lily R, LaDuca, Holly, Blazer, Kathleen R, Slavin, Thomas, FACMG, D A B M D, Pesaran, Tina, Rybak, Christina, Solomon, Ilana, Niell-Swiller, Mariana, Dolinsky, Jill S, Castillo, Danielle, Elliott, Aaron, Gau, Chia-Ling, Speare, Virginia, Jasperson, Kory
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Genes, p53 - genetics Genetic Predisposition to Disease - genetics Genetic Testing - methods Genetic Variation - genetics Germ Cells Germ-Line Mutation - genetics Human Genetics Humans Laboratory Medicine Li-Fraumeni Syndrome - diagnosis Mutation - genetics Pedigree Tumor Suppressor Protein p53 - genetics Tumor Suppressor Protein p53 - metabolism
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Zusammenfassung:	Purpose Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (ACEs) with TP53 variants as germ-line results. Methods Pathogenic T P53 variants with abnormal next-generation sequencing metrics (e.g., decreased ratio (
ISSN:	1098-3600 1530-0366
DOI:	10.1038/gim.2017.196