Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

Abstract Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant-positive individuals in the general population are unaware of their risk, and little is known about prevalence in non-European populations. We investiga...

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Principais autores:	Noura S. Abul-Husn, Emily R. Soper, Jacqueline A. Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E. Rodriguez, CBIPM Genomics Team, Regeneron Genetics Center, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel, Eimear E. Kenny
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BMC 2019-12-01
סדרה:	Genome Medicine
גישה מקוונת:	https://doi.org/10.1186/s13073-019-0691-1
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