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Cited by 17Multiple Myeloma Research and TreatmentsGenomics and Rare DiseasesGenetic factors in colorectal cancer

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

Open access
Bolli, Niccolo, Barcella, Matteo, Salvi, Erika, D'Avila, Francesca, Vendramin, Antonio, De Philippis, Chiara, Munshi, Nikhil C., Avet‐Loiseau, Herve +7 more·2017·Cancer
DOI 10.1002/cncr.30777
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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. © 2017 American Cancer Society

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  • Studies report sporadic genetic events in families with a history of multiple myeloma.

    “The first includes studies reporting sporadic genetic events in families with a history of MM.51,52”

    From Evolution of Multiple Myeloma from a Genomic Perspective (2026) · cites this paper as [52]

    The Results describe a family with multiple myeloma and MGUS and identify rare or novel candidate variants. The Results and Discussion frame these as possible inherited risk factors, not as sporadic genetic events in the family; the Discussion uses “sporadic myeloma” for cases outside the family. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • There is a fraction of individuals with a genetic predisposition to develop multiple myeloma.

    “Finally, the idea that there is a fraction of individuals with a genetic predisposition to develop MM is further supported by two additional lines of evidence.”

    From Evolution of Multiple Myeloma from a Genomic Perspective (2026) · cites this paper as [52]

  • There exist families in which multiple myeloma and MGUS/SMM are clearly enriched.

    “While occasional, these studies highlighted the existence of families in which MM and MGUS/SMM are clearly enriched.”

    From Evolution of Multiple Myeloma from a Genomic Perspective (2026) · cites this paper as [52]

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Authors
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.
Affiliations
  • Department of Oncology and Hemato‐Oncology University of Milan Milan Italy
  • University of Milan (IT)
  • Genomic and Bioinformatics Unit Department of Health Sciences, University of Milan Milan Italy
  • Dana-Farber Cancer Institute (US)
  • Laboratory for Genomics in Myeloma University Cancer Center of Toulouse CRCT INSERM 1037, Toulouse France
  • Wellcome Sanger Institute (GB)
  • Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
Corresponding author
Montefusco, Vittorio
ORCID
Venue
Cancer
Publisher
Wiley
Published
2017-05-23
Volume
123
Issue
19
Pages
3701-3708
ISSN
  • 0008-543X (ISSN-L)
  • 1097-0142
DOI
10.1002/cncr.30777
OpenAlex
W2616965254
Cited by
17
References
3
Citations by year
2025: 2 · 2024: 2 · 2023: 2 · 2022: 1 · 2021: 1 · 2020: 5 · 2019: 2 · 2018: 1 · 2017: 1
FWCI
1.90
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Cancer (publishedVersion)
  • PubMed (publishedVersion)
Funders
Associazione Italiana per la Ricerca sul Cancro
Topics
  • Health Sciences › Medicine › Hematology › Multiple Myeloma Research and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
monoclonal gammopathy, plasma cell dyscrasia, familial risk, autosomal dominant inheritance, risk alleles, multiple myeloma, single nucleotide polymorphisms, genetic mutations, exome sequencing
MeSH terms
Alleles, Family, Female, Humans, Male, Middle Aged, Multiple Myeloma, Mutation, Paraproteinemias, Pedigree, Risk, Penetrance, Polymorphism, Single Nucleotide, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing

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