Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles

Autor:	Niccolo, Bolli, Matteo, Barcella, Erika, Salvi, Francesca, D'Avila, Antonio, Vendramin, Chiara, De Philippis, Nikhil C, Munshi, Herve, Avet-Loiseau, Peter J, Campbell, Alberto, Mussetti, Cristiana, Carniti, Francesco, Maura, Cristina, Barlassina, Paolo, Corradini, Vittorio, Montefusco
Rok vydání:	2017
Předmět:	Male Risk Paraproteinemias High-Throughput Nucleotide Sequencing Penetrance Middle Aged Polymorphism Single Nucleotide Pedigree Mutation Humans Family Female Multiple Myeloma Alleles Genome-Wide Association Study
Zdroj:	Cancer. 123(19)
ISSN:	1097-0142
Popis:	The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele.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.The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family.To the authors' knowledge, the current study is the first to provide a whole-exome sequencing approach to such cases, and a framework analysis that could be applied to further understanding of the inherited risk of developing plasma cell dyscrasias. Cancer 2017;123:3701-3708. © 2017 American Cancer Society.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9b8d0c79d1422d36714289158ea5dcd4 https://pubmed.ncbi.nlm.nih.gov/28542843 Zobrazit plný text záznamu Plný text