Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Noura S Abul-HusnEmily R SoperJacqueline A OdgisSinead CullinaDean BoboArden MoscatiJessica E Rodrigueznull nullnull nullRuth J F LoosJudy H ChoGillian M BelbinSabrina A SuckielEimear E KennyPublished in: Genome medicine (2019)
These findings deepen our knowledge about BRCA1/2 variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.