Article
Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.
PloS one - 1 Jan 2021
Matzenbacher Bittar Camila, de Araújo Rocha Yasminne Marinho, Vieira Igor Araujo, Rosset Clévia, Andreis Tiago Finger, Sartor Ivaine Tais Sauthier, Artigalás Osvaldo, Netto Cristina B O, Alemar Barbara, Macedo Gabriel S, Ashton-Prolla Patricia
Abstract excerpt
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age. The core tumors related to LFS are bone and soft tissue sarcomas, premenopausal breast cancer, brain tumors, adrenocortical carcinomas (ACC), and leukemias. The revised...
Topics
- Adolescent
- Adult
- Brazil
- Child
- Child, Preschool
- Female
- Germ-Line Mutation
- Humans
- Infant
- Li-Fraumeni Syndrome