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- Title
BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?
- Authors
Dubsky, Peter; Jackisch, Christian; Im, Seock-Ah; Hunt, Kelly K.; Li, Chien-Feng; Unger, Sheila; Paluch-Shimon, Shani
- Abstract
BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants (gBRCAm) are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. BRCA1/2 mutation status may also impact decisions on other systemic therapies, risk-reducing measures, and choice of surgery. Consequently, demand for gBRCAm testing has increased. Several barriers to genetic testing exist, including limited access to testing facilities, trained counselors, and psychosocial support, as well as the financial burden of testing. Here, we describe current implications of gBRCAm testing for patients with breast cancer, summarize current approaches to gBRCAm testing, provide potential solutions to support wider adoption of mainstreaming testing practices, and consider future directions of testing.
- Subjects
GENETIC testing; GENETIC counseling; BREAST cancer; TUMOR suppressor genes; BRCA genes; METASTATIC breast cancer; YOUNG women; HEMOPHILIACS
- Publication
NPJ Breast Cancer, 2024, Vol 10, Issue 1, p1
- ISSN
2374-4677
- Publication type
Article
- DOI
10.1038/s41523-024-00686-8