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

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 investigated BRCA...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Abul-Husn, Noura S., Soper, Emily R., Odgis, Jacqueline A., Cullina, Sinead, Bobo, Dean, Moscati, Arden, Rodriguez, Jessica E., Loos, Ruth J. F., Cho, Judy H., Belbin, Gillian M., Suckiel, Sabrina A., Kenny, Eimear E.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6938627/
https://ncbi.nlm.nih.gov/pubmed/31892343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0691-1
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