Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer
In patients with cancer, MGPT identified a rate of 1.7% PV in unexpected actionable cancer predisposition genes. Findings were more often unexpected (2.8%) when considering only the patient cancer history. These findings may justify consideration of broader MGPT panels in patients with cancer, given implications for subsequent surveillance, cascade testing, and treatment options dependent on specific findings.
Authors
- Matthew B.B. Yurgelun (ORCID: https://orcid.org/0000-0002-6184-9273)
- Judy Ellen Garber (ORCID: https://orcid.org/0000-0001-9449-3982)
- Lindsay Kipnis (ORCID: https://orcid.org/0009-0009-6388-5102)
- Michael DeSarno
- Ryan M. Buehler (ORCID: https://orcid.org/0009-0005-4798-1365)
- Sapna Syngal (ORCID: https://orcid.org/0000-0001-5487-7471)
- Katelyn M. Breen (ORCID: https://orcid.org/0009-0004-9670-0630)
- Chinedu Ukaegbu (ORCID: https://orcid.org/0000-0002-1629-2824)
- Kara K. Landry (ORCID: https://orcid.org/0000-0002-1912-739X)
- Audrey Morrissette
- Mersedeh Rohanizadegan (ORCID: https://orcid.org/0000-0002-5636-7317)
- Huma Q. Rana (ORCID: https://orcid.org/0000-0002-1598-6752)
- Kaleigh Patton
- Farid Barquet Ramos
Institutions
- University of Vermont (US)
- University of Vermont Medical Center (US)
- Dana-Farber Cancer Institute (US)
- Cancer Genetics (United States) (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1200/po-24-00553
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00