Article
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Journal of medical genetics - 1 Apr 2015
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
Abstract excerpt
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, non-pathogenic or as variants of unknown significance (VUS). Many VUS are rare missense variants leading to single amino...
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