Genome sequencing finds hereditary cancer variants in 23% of 400 at-risk people in Bahia, Brazil
Pathogenic or likely pathogenic variants turned up in 23% of 400 people at risk for hereditary cancer in Salvador, Bahia, according to a study in npj Genomic Medicine. Participants were recruited at a Reference Service for Rare Diseases and sequenced through the Brazilian Rare Genomes Project, using germline whole-genome sequencing. Most were female. A conclusive molecular diagnosis came in 19% of cases. The variants fell most often in BRCA1, BRCA2, MUTYH, NF1, ATM and TP53, and the team also found a deep intronic NF1 variant. Neither genetic ancestry nor self-identified race was associated with diagnostic yield.
Access to genetic testing is limited in many low- and middle-income countries, Brazil among them, and little is known about what drives diagnostic results in admixed populations. This cohort adds data on both, including a noncoding variant that whole-genome sequencing was able to detect.
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].