Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Cell division and organismal development are exquisitely orchestrated and regulated
processes. The dysregulation of the molecular mechanisms underlying these processes …

Purpose The aim of the study was to update the description of Li-Fraumeni syndrome (LFS),
a remarkable cancer predisposition characterized by extensive clinical heterogeneity …

Genetic diversity of germline variants in breast cancer (BC) predisposition genes is
unexplored in miscegenated populations, such those living in Latin America. We evaluated …

BACKGROUND: Sarcoma is the index diagnosis of Li‐Fraumeni syndrome (LFS), a familial
predisposition to cancer that also includes brain cancer, breast cancer, and adrenal cortical …

Purpose The incidence of pediatric adrenocortical tumors (ACTs) is remarkably high in
southern Brazil, where more than 90% of patients carry the germline TP53 mutation R337H …

Since its description by L i and F raumeni over 40 years ago, L i–F raumeni syndrome (LFS)
remains one of the most striking familial cancer predisposition syndromes. Children and …

Purpose We performed a systematic review of the ethical, social, and cultural issues
associated with delivery of genetic services in low-and middle-income countries (LMICs) …

Due to patterns of migration, selection, and population expansion, founder effects are
common among humans. In Southern Brazil, a recurrent TP53 mutation, p. R337H, is …

Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a
germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is …