Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
May 29, 2026Journal of Clinical Oncology

Expanded germline genetic testing of patients with hematologic malignancies to identify high proportion with hereditary cancer predisposition.

View Full Paper
Ask AI
Bookmark
Share

Authors

OCOzge Ceyhan‐BirsoyLBLauren BanaszakEFElise Fiala

Discussion

Loading...

Member takes

Overview

Randomized trial identifies hereditary cancer predisposition in hematologic malignancies, suggesting a need for enhanced genetic testing practices.

Key Points

  • The aim is to identify hereditary cancer predisposition in patients with hematologic malignancies through expanded germline genetic testing.
  • Genetic testing on 1300 patients suspected of hematologic malignancies using the Heme Germline-MSK-IMPACT assay.
  • Testing focused on 82 hereditary cancer predisposition genes, utilizing non-invasive DNA samples from nails or saliva.
  • Somatic testing was conducted alongside germline analysis using matched tumor-normal sequencing.
  • Identified germline pathogenic or likely pathogenic variants (gPVs) in 16.7% (217/1300) of patients.
  • Detected high penetrance gPVs in 5.8% (76/1300) of patients, including significant variants associated with hematologic malignancies.
  • Moderate penetrance gPVs were found in 6.2% (81/1300), emphasizing the genetic complexity in this population.

Cite This Study

Ceyhan‐Birsoy et al. (2026) studied this question.

synapsesocial.com/papers/6a192f88fab5b468c4418b09https://doi.org/10.1200/jco.2026.44.16_suppl.10612
View Full Paper
Ask AI
Bookmark
Share

Also Consider

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

  1. 1Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute2025
  2. 2Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications2024 · 23 citations
  3. 3Selective germline testing in multiple myeloma patients yields a six-fold increase in actionable cancer predisposition findings: Time for screening guidelines?2025 · 1 citations
  4. 4Germline Predisposition to Hematopoietic Malignancies: An Overview2024
  5. 5Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults2025