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Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles
- Source :
- Cancer. 123(19)
- Publication Year :
- 2017
-
Abstract
- 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.
Details
- ISSN :
- 10970142
- Volume :
- 123
- Issue :
- 19
- Database :
- OpenAIRE
- Journal :
- Cancer
- Accession number :
- edsair.pmid..........9b8d0c79d1422d36714289158ea5dcd4