BRCA1 Circos: a visualisation resource for functional analysis of missense variants

BACKGROUND: Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 variants have been identified in the population and can be classified as pathogenic, n...

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Detalles Bibliográficos
Autores principales: Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392196/
https://www.ncbi.nlm.nih.gov/pubmed/25643705
http://dx.doi.org/10.1136/jmedgenet-2014-102766

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