European Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil

TP53 (c.1010G>A; p.Arg337His, Brazilian founder variant)

p.R337H is a TP53 founder variant present in approximately 1 in 300 persons of European colonial ancestry in southern Brazil; this specific variant is associated with an attenuated Li-Fraumeni spectrum (predominance of adrenocortical carcinoma and breast cancer) compared to classical TP53 variants

Analysis of the prevalence and clinical implications of the TP53 p.R337His founder variant (c.1010G>A) in populations of European colonial ancestry in Brazil. This variant affects approximately 1 in 300 persons in these populations, a prevalence 10 times higher than classical Li-Fraumeni variants. The authors examine colonial European demographic legacies in the spread of this variant, phenotypic specificities (predominant pediatric adrenocortical carcinoma, then breast cancer) and implications for population screening programs.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

TP53 p.R337H illustrates how colonial demographic bottlenecks have created hereditary predispositions at a population scale. Its prevalence (1/300) in certain Brazilian populations justifies proactive screening programs. In France, relevant for patients of Brazilian/Lusophone origin.

high-prevalence population founder variant +2; implications for population screening +2; unique demographic/migration context +2; Cancer Epidemiol Biomarkers Prev +1