Niccolo Bolli1,2,3, Matteo Barcella4, Erika Salvi4, Francesca D'Avila4, Antonio Vendramin1,2, Chiara De Philippis1,2, Nikhil C Munshi5, Herve Avet-Loiseau6, Peter J Campbell3, Alberto Mussetti2, Cristiana Carniti2, Francesco Maura1, Cristina Barlassina4, Paolo Corradini1,2, Vittorio Montefusco2. 1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy. 2. Department of Hematology and Pediatric Onco-Hematology, IRCCS Foundation National Cancer Institute, Milan, Italy. 3. The Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom. 4. Genomic and Bioinformatics Unit, Department of Health Sciences, University of Milan, Milan, Italy. 5. LeBow Institute for Myeloma Therapeutics, Jerome Lipper Center for Multiple Myeloma Research, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts. 6. Laboratory for Genomics in Myeloma, University Cancer Center of Toulouse, CRCT INSERM 1037, Toulouse, France.
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.
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.
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