Article
Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles.
Cancer - 1 Oct 2017
Bolli Niccolo, Barcella Matteo, Salvi Erika, D'Avila Francesca, Vendramin Antonio, De Philippis Chiara, Munshi Nikhil C, Avet-Loiseau Herve, Campbell Peter J, Mussetti Alberto, Carniti Cristiana, Maura Francesco, Barlassina Cristina, Corradini Paolo, Montefusco Vittorio
Abstract excerpt
BACKGROUND: The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS: The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS: The authors identified gene mutations and...
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