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

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

Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]

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

Beck AC1, Yuan H1, Liao J1, Imperiale P2, Shipley K1, Erdahl LM1, Sugg SL1, Weigel RJ1, Lizarraga IM3.

Author information

Abstract

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.

KEYWORDS:

BRCA; Breast cancer; Family history; Genetic testing; NCCN

PMID:

 

31255259

 

DOI:

 

10.1016/j.amjsurg.2019.06.012