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December 8, 2025Blood

Selective germline testing in multiple myeloma patients yields a six-fold increase in actionable cancer predisposition findings: Time for screening guidelines?

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Authors

MRManuel Cobo del RosalSTSantiago Thibaud

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Overview

Retrospective analysis reveals increased actionable PGVs in multiple myeloma patients, suggesting need for screening guidelines.

Key Points

  • Evaluate the impact of selective germline testing on the detection of pathogenic variants in multiple myeloma patients.
  • Retrospective identification of patients with plasma cell disorders referred for cancer genetic counseling.
  • Germline DNA collected via blood, saliva, or skin biopsy.
  • Assessment of clinical and genomic data from electronic health records.
  • 30% of patients with pathogenic germline variants were identified through testing.
  • 40% of multiple myeloma patients had actionable PGVs, a 6-fold increase from unselected cohorts.
  • Most identified variants were in high-penetrance cancer susceptibility genes, including BRCA2 and BRCA1.

Cite This Study

Rosal et al. (2025) studied this question.

synapsesocial.com/papers/69362f5a4fa91c937236db62https://doi.org/10.1182/blood-2025-2151
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Pathogenic germline variant discovery in plasma cell disorders: Insights from genetic counseling referrals and testing.2024
  2. 2Germline gene-specific associations in a large prostate cancer cohort.2024 · 1 citations
  3. 320P Unexpected germline pathogenic variants in gynaecologic cancers identified through a comprehensive cancer genome profiling programme2024
  4. 4Multiple Myeloma Risk and Outcomes are Associated with Pathogenic Germline Variants in DNA Repair Genes2024 · 12 citations
  5. 5A role for germline variants in multiple myeloma?2024