lunes, 8 de julio de 2019

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

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.

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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.