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

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

Peter Dubsky  1   2 , Christian Jackisch  3 , Seock-Ah Im  4 , Kelly K Hunt  5 , Chien-Feng Li  6 , Sheila Unger  7 , Shani Paluch-Shimon  8
Affiliations
Review

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

Peter Dubsky et al. NPJ Breast Cancer. .

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.

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Conflict of interest statement

C.J. has received consultancy fees from AstraZeneca, Daiichi Sankyo, Eli Lilly & Co., Novartis, and Roche; received support for travel or to attend meetings from Daiichi Sankyo, Pierre Fabre, and Roche; and has an unpaid role on the AGO Task Force for treatment recommendations on diagnosis and therapy in breast cancer. K.K.H. has received research funding to her institution from Cairn Surgical, Eli Lilly & Co., and Lumicell; is an Editor for Current Breast Cancer Reports (Springer); has received consultancy fees from Armada Health and honoraria for lectures and educational events from AstraZeneca. P.D. has received grants to his institution from Bristol Myers Squibb, MSD, and Roche to support patient activities; consultancy fees to his institution from AstraZeneca, MSD, and Roche; payments for speaking engagements or educational activities to his institution from AstraZeneca; and support to his institution for attending meetings or travel from Roche. S-A.I. has received grants from AstraZeneca, Boryung, Eisai, Daewoong Pharmaceutical, Daiichi Sankyo, Pfizer, and Roche; and consultancy fees from AstraZeneca, Bertis, Daiichi Sankyo, Eisai, Eli Lilly & Co, GSK, Hanmi, Idience, MSD, Novartis, Pfizer, and Roche. S.P-S. has received an independent research grant from Pfizer; consultancy fees to their institution from AstraZeneca, Daiichi Sankyo, Eli Lilly & Co., Gilead, Medison, MSD, Novartis, Pfizer, Roche, and Sharing Progress in Cancer Care; support to their institution for attending meetings and/or travel from Gilead, Pfizer, and Roche; and is the Subject Editor for breast cancer and on the clinical practice guideline committee of the European Society for Medical Oncology (ESMO). S.U. has received honoraria to her institution for speaking engagements or educational events. C-F.L. has no competing interests to disclose.

Figures

Fig. 1
Fig. 1
The pathway from gBRCAm testing to decisions relating to risk-reducing measures, choice of surgery, and systemic therapies.
Fig. 2
Fig. 2
gBRCAm counseling and testing in clinical practice.
Fig. 3
Fig. 3. Eligibility for BRCAm testing using different testing criteria.
The graph shows estimates of patient eligibility for BRCA testing among BRCAm carriers. Data to the left of the dashed line is reproduced from a report in 2019 by the MCG group assessing rates of testing eligibility by different criteria, while the bar to the right of the dashed line illustrates the result of an analysis by ASBrS published in 2020, examining the effect of including all individuals meeting NCCN criteria v1.2020 plus those diagnosed with breast cancer at ≤65 years. ASBrS, American Society of Breast Surgeons; BOADICEA, Breast and Ovarian Analysis of Disease Incidence and Cancer Estimation Algorithm (≥10 refers to a 10% or greater probability that a BRCA1 or BRCA2 mutation is present); MCG, Mainstreaming Cancer Genetics; MSS, Manchester Scoring System; NCCN, National Comprehensive Cancer Network® (NCCN®).
Fig. 4
Fig. 4. Key steps and challenge points in traditional gBRCAm testing pathways.
MDT, multidisciplinary team.
Fig. 5
Fig. 5. Example gBRCAm testing pathway to illustrate the mainstream genetic testing pathway.
VUS, variant of uncertain significance.
See this image and copyright information in PMC

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