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

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

Research output: Contribution to journalArticle

Abstract

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 single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family. CONCLUSIONS: 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.

Original languageEnglish
Pages (from-to)3701-3708
Number of pages8
JournalCancer
Volume123
Issue number19
DOIs
Publication statusPublished - Oct 1 2017

Keywords

  • gene mutations
  • hereditary cancer
  • multiple myeloma
  • next-generation sequencing
  • single-nucleotide polymorphism

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Bolli, N., Barcella, M., Salvi, E., D'Avila, F., Vendramin, A., De Philippis, C., Munshi, N. C., Avet-Loiseau, H., Campbell, P. J., Mussetti, A., Carniti, C., Maura, F., Barlassina, C., Corradini, P., & Montefusco, V. (2017). Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles. Cancer, 123(19), 3701-3708. https://doi.org/10.1002/cncr.30777