The p53 tumor suppressor functions as a tetrameric transcription factor to regulate hundreds
of genes—many in a tissue-specific manner. Missense mutations in cancers in the p53 DNA …

About one in 300 women will be diagnosed with breast cancer before the age of 40.
Advances in screening have not had an impact on mortality in women who are too young to …

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

Breast cancer is the most common malignancy in women with 6.6% of cases diagnosed in
young women below the age of 40. Despite variances in risk factors, Age Standardized …

In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni.
Using a classical epidemiologic approach, they retrospectively evaluated 280 medical …

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

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 …

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 …

Childhood adrenocortical tumors (ACT) are rare. In the USA, only about 25 new cases occur
each year. In Southern Brazil, however, approximately 10 times that many cases are …