BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

Peter Dubsky; Christian Jackisch; Seock-Ah Im; Kelly K Hunt; Chien-Feng Li; Sheila Unger; Shani Paluch-Shimon

doi:10.1038/s41523-024-00686-8

BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

NPJ Breast Cancer. 2024 Sep 5;10(1):77. doi: 10.1038/s41523-024-00686-8.

Authors

Peter Dubsky^{1

2}, Christian Jackisch³, Seock-Ah Im⁴, Kelly K Hunt⁵, Chien-Feng Li⁶, Sheila Unger⁷, Shani Paluch-Shimon⁸

Affiliations

¹ Breast and Tumor Center, Hirslanden Klinik St. Anna, Lucerne, Switzerland. peter.dubsky@hirslanden.ch.
² University of Lucerne, Faculty of Health Sciences and Medicine, Lucerne, Switzerland. peter.dubsky@hirslanden.ch.
³ Department of Obstetrics and Gynecology, Breast and Gynecologic Cancer Center, Sana Klinikum Offenbach, Offenbach, Germany.
⁴ Seoul National University Hospital, Cancer Research Institute, Seoul National University College of Medicine, Seoul National University, Seoul, Republic of Korea.
⁵ MD Anderson Cancer Center, Houston, TX, USA.
⁶ National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
⁷ Genetica, Lausanne, Switzerland.
⁸ Hadassah University Hospital & Faculty of Medicine, Hebrew University, Jerusalem, Israel.

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.

Publication types

Review