Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.

Elizabeth VargasRobert de DeugdVictoria Eugenia VillegasFabian GilLina MoraLuis Fernando ViañaRicardo BrugesAlejandro GonzalezJuan Carlos GalvisUte HamannDiana Maria Torres Lopez

Published in: The oncologist (2022)

Our data showed that 2/5 (40%) mutations (including the one previously identified in this sample set) are shared by White/mestizo Colombian and Afro-Colombian populations. This suggests that these 2 populations are closely related. Nevertheless, variations in the BRCA1/2 mutational spectrum among Afro-Colombian subgroups from different regions of the country were observed, suggesting that specific genetic risk assessment strategies need to be developed.

Keyphrases

early onset
risk assessment
late onset
end stage renal disease
breast cancer risk
ejection fraction
newly diagnosed
chronic kidney disease
risk factors
electronic health record
genome wide
gene expression
peritoneal dialysis
big data
machine learning
oxidative stress
human health
artificial intelligence