Ontology highlight
ABSTRACT:
SUBMITTER: de Andrade KC
PROVIDER: S-EPMC6858060 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
de Andrade Kelvin César KC Mirabello Lisa L Stewart Douglas R DR Karlins Eric E Koster Roelof R Wang Mingyi M Gapstur Susan M SM Gaudet Mia M MM Freedman Neal D ND Landi Maria Teresa MT Lemonnier Nathanaël N Hainaut Pierre P Savage Sharon A SA Achatz Maria Isabel MI
Human mutation 20170921 12
Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual's lifetime. The actual population prevalence of pathogenic germline TP53 mutations is still unclear, most likely due to biased selection of cancer affected families. The aim of this study was to estimate the population prevalence of potentially pathogenic TP53 exonic variants in three sequencing databases, totaling 63,9 ...[more]