Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy.

Autor: Apostolova C; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada., Ferroum A; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada., Alhassan B; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada., Prakash I; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada., Basik M; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada., Boileau JF; Department of Surgery, McGill University Medical School, Montreal, QC, Canada., Martel K; Department of Surgery, McGill University Medical School, Montreal, QC, Canada., Meterissian S; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada., Villareal Corpuz V; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada., Wong N; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada; Department of Human Genetics, McGill University Medical School, Montreal, QC, Canada., Foulkes WD; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada; Department of Human Genetics, McGill University Medical School, Montreal, QC, Canada., Wong SM; Department of Surgery, McGill University Medical School, Montreal, QC, Canada; Stroll Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada; Department of Oncology, McGill University Medical School, Montreal, QC, Canada. Electronic address: sm.wong@mcgill.ca.
Jazyk: angličtina
Zdroj: European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology [Eur J Surg Oncol] 2024 Jun; Vol. 50 (6), pp. 108324. Date of Electronic Publication: 2024 Apr 12.
DOI: 10.1016/j.ejso.2024.108324
Abstrakt: Introduction: The impact of timing of genetic testing on uptake of risk reducing mastectomy (RRM) in affected female BRCA1/2 or PALB2 carriers remains an area of evolving interest, particularly with the introduction of mainstream genetic testing initiatives.
Methods: Women with stage I-III breast cancer and a confirmed germline pathogenic variant in BRCA1/2 or PALB2 between 2000 and 2023 were identified from an institutional genetics database. Uptake of RRM was evaluated according to disclosure of genetic testing results before or after index surgery for a first diagnosis of breast cancer.
Results: The cohort included 287 female BRCA1/2 or PALB2 carriers with a median age of 44 years (IQR, 36-52). Overall, 155 (54 %) carriers received genetic testing results before and 132 (46 %) after index breast surgery. Receipt of genetic testing results before surgery was associated with a higher rate of index bilateral mastectomy (58.7 % vs. 7.6 %, p < 0.001) and a commensurate decrease in adjuvant radiation (41.9 % vs. 74.2 %, p < 0.001). At a median follow up of 4.4 years after genetic testing, 219 (76.3 %) affected carriers had undergone bilateral RRM, including 83.9 % with preoperative knowledge and 67.4 % of patients with postoperative knowledge of their germline pathogenic variant (log rank, p < 0.001). On multivariate regression, disclosure of genetic testing results before index breast surgery was independently associated with long-term uptake of bilateral mastectomy (HR 1.69, 95 % CI 1.21-2.38).
Conclusion: Genetic testing results delivered prior to index breast surgery increase uptake of bilateral RRM in affected BRCA1/2 and PALB2 carriers. Efforts to mainstream genetic testing would help optimize surgical decision-making.
Competing Interests: Declaration of competing interest Jean-Francois Boileau reports honoraria from Roche, Novartis, Genomic Health, Pfizer, Allergan, and Merck; personal fees from Roche, Genomic Health, NanoString Technologies, Pfizer, Eli Lilly, Novartis, and Merck; and travel support from Roche, GlaxoSmithKline, Novartis, Pfizer, and Lifecell outside the submitted work.
(© 2024 Elsevier Ltd, BASO ∼ The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.)
Databáze: MEDLINE
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