TBACKGROUND: 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.

Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles / N. Bolli, M. Barcella, E. Salvi, F. D'Avila, A. Vendramin, C. De Philippis, N.C. Munshi, H. Avet Loiseau, P.J. Campbell, A. Mussetti, C. Carniti, F. Maura, C. Barlassina, P. Corradini, V. Montefusco. - In: CANCER. - ISSN 0008-543X. - (2017). [Epub ahead of print] [10.1002/cncr.30777]

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

N. Bolli
Primo
;
M. Barcella
Secondo
;
E. Salvi;F. D'Avila;A. Vendramin;C. De Philippis;A. Mussetti;F. Maura;C. Barlassina;P. Corradini
Penultimo
;
2017

Abstract

TBACKGROUND: 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.
gene mutations; hereditary cancer; multiple myeloma; next-generation sequencing; single-nucleotide polymorphism
Settore MED/15 - Malattie del Sangue
23-mag-2017
Article (author)
File in questo prodotto:
File Dimensione Formato  
cncr30777.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 283.38 kB
Formato Adobe PDF
283.38 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/504063
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 9
social impact