BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?
Peter DubskyChristian JackischSeock-Ah ImKelly K HuntChien-Feng LiSheila UngerShani Paluch-ShimonPublished in: NPJ breast cancer (2024)
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.
Keyphrases
- breast cancer risk
- healthcare
- minimally invasive
- primary care
- mental health
- ejection fraction
- gene expression
- coronary artery disease
- dna repair
- genome wide
- risk factors
- smoking cessation
- dna damage
- hepatitis c virus
- body composition
- transcription factor
- young adults
- climate change
- atrial fibrillation
- percutaneous coronary intervention
- acute coronary syndrome
- replacement therapy
- high intensity
- human health
- childhood cancer
- patient reported