Whole-genome sequencing finds hereditary cancer variants in Northeast Brazil
Germline whole-genome sequencing of 400 individuals at risk for hereditary cancer in Salvador, Bahia, found pathogenic or likely pathogenic variants in 23% of participants. A conclusive molecular diagnosis was established in 19% of cases. Participants were predominantly female, and the most frequently affected genes were BRCA1, BRCA2, MUTYH, NF1, ATM and TP53. Neither self-reported race/ethnicity nor genetic ancestry was associated with diagnostic yield or variant classification.
The findings show that genetic ancestry was not associated with diagnostic yield in this admixed cohort from Northeast Brazil.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].