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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 Kenny
Published 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.
Keyphrases
  • copy number
  • healthcare
  • breast cancer risk
  • genome wide
  • genetic diversity
  • dna methylation
  • case report
  • single cell