Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.

Autor: Beck AC; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Yuan H; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Liao J; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Imperiale P; University of Iowa Carver College of Medicine, 375 Newton Road, Iowa City, IA, 52242, USA., Shipley K; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Erdahl LM; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Sugg SL; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Weigel RJ; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA., Lizarraga IM; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA. Electronic address: Ingrid-lizarraga@uiowa.edu.
Jazyk: angličtina
Zdroj: American journal of surgery [Am J Surg] 2020 Jan; Vol. 219 (1), pp. 145-149. Date of Electronic Publication: 2019 Jun 19.
DOI: 10.1016/j.amjsurg.2019.06.012
Abstrakt: Background: BRCA genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) in breast cancer patients who meet specific criteria. Limited data are available on the likelihood of detecting a mutation when these guidelines are followed.
Methods: A retrospective chart review examined patients with breast cancer who underwent BRCA testing based on NCCN guidelines.
Results: Twelve (6.0%) of the 199 patients had a deleterious BRCA mutation. Family history of BRCA mutations (50%, p = 0.019), age ≤45 at diagnosis (9.7%, p = 0.034) and meeting ≥3 NCCN criteria (13.3%, p = 0.03) yielded the highest rates of BRCA mutation. Having a family history of BRCA mutation and age ≤45 were associated with increased rate of BRCA mutation on multivariate analysis (OR 14.3, CI 1.2-166.3; OR 11.6, CI 1.2-108.6).
Conclusion: Select NCCN criteria are associated with higher rates of BRCA mutations. Waiting for genetic testing results to guide surgical management may be warranted in this subset of patients.
(Copyright © 2019 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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