Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer
In this cohort study of patients with MpBC, a substantial proportion of clinically tested patients had a PGV in a breast cancer susceptibility gene, most commonly BRCA1. Germline testing was high yield in patients with MpBC, many of whom would be included in current germline testing eligibility criteria.
Authors
- Arravinth Anantharajah
- Angela R. Bradbury (ORCID: https://orcid.org/0000-0001-9607-6402)
- Anne Marie McCarthy (ORCID: https://orcid.org/0000-0002-3068-2669)
- Kara N. Maxwell (ORCID: https://orcid.org/0000-0001-8192-4202)
- Kaitlin Demarest (ORCID: https://orcid.org/0000-0003-4203-3831)
- Katherine L. Nathanson (ORCID: https://orcid.org/0000-0002-6740-0901)
- Anupma Nayak (ORCID: https://orcid.org/0000-0002-7445-1897)
- Mersedeh Rohanizadegan (ORCID: https://orcid.org/0000-0002-5636-7317)
- Payal Shah (ORCID: https://orcid.org/0009-0004-7225-1674)
- Susan M. Domchek
Institutions
- Hospital of the University of Pennsylvania (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2025-02-18
- DOI
- https://doi.org/10.1001/jamanetworkopen.2024.60312
- Citations
- 2
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 3.63