Ontology highlight
ABSTRACT:
SUBMITTER: Andrade KC
PROVIDER: S-EPMC4910548 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Andrade Kelvin C KC Santiago Karina M KM Fortes Fernanda P FP Mambelli Lisley I LI Nóbrega Amanda F AF Achatz Maria I MI
Genetics and molecular biology 20160501 2
Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer but the penetrance is lower than in typical DNA binding domain mutations. To date, only a few families were detected and diagnosis of carriers remains ...[more]