A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Pathogenic variants in BRCA1 or BRCA2 are identified in ∼20% of families with multiple individuals affected by early-onset breast and/or ovarian cancer. Extensive searches for additional highly penetrant genes or alternative mutational mechanisms altering BRCA1 or BRCA2 have not explained the missin...

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Detalles Bibliográficos
Autores principales: Evans, D.Gareth R., van Veen, Elke M., Byers, Helen J., Wallace, Andrew J., Ellingford, Jamie M., Beaman, Glenda, Santoyo-Lopez, Javier, Aitman, Timothy J., Eccles, Diana M., Lalloo, Fiona I., Smith, Miriam J., Newman, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080768/
https://www.ncbi.nlm.nih.gov/pubmed/30075112
http://dx.doi.org/10.1016/j.ajhg.2018.07.002

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