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

Area of Science:

• Genetics
• Cancer Research
• Population Health

Background:

• Latin America exhibits high genetic diversity due to historical colonization and migration patterns.
• This diversity, alongside social inequalities, impacts cancer risk through genetic and environmental interactions.
• Indigenous ancestry is associated with reduced breast cancer risk, influenced by reproductive and healthcare factors.

Purpose of the Study:

• To trace the historical origins and spread of the TP53 p.R337H founder variant in Brazil.
• To highlight how historical population dynamics shape contemporary cancer risk.
• To explore the potential of founder mutations for genetic screening and precision medicine in Latin America.

Main Methods:

• Historical analysis of the TP53 p.R337H founder variant.
• Population genetics approaches to understand variant spread.
• Examination of the variant's prevalence in southern Brazil.

Main Results:

• The TP53 p.R337H variant was introduced by Portuguese colonizers and disseminated through Brazil's population growth.
• This variant is now found in approximately 1 in 300 individuals in southern Brazil.
• Founder mutations are prevalent across Latin America, often linked to Iberian ancestry.

Conclusions:

• Historical events significantly influence current cancer risk profiles in Latin America.
• Founder variants like TP53 p.R337H present opportunities for cost-effective genetic screening and personalized medicine.
• Studying these genetic legacies can advance cancer prevention, treatment, and health equity globally.