Human Genomics

Featured article: Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

Interpretation of variants of unknown significance in genetic tests is complicated in ethnically diverse populations, given the lack of information regarding the common spectrum of genetic variation in clinically relevant genes. In this study, Fernández-Lopez et al. analyzed Mexican population data from a sample of 3985 outbred individuals and an additional 66 hereditary breast cancer patients to better define the spectrum of common genomic variation of the BRCA1 and BRCA2 genes. Their analyses identified the most common genetic variants in these clinically relevant genes as well as the presence and frequency of specific pathogenic mutations present in the Mexican population.