American journal of surgery · 2019
Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Beck Anna C, Yuan Haimiao, Liao Junlin, Imperiale Pamela, Shipley Krysten, Erdahl Lillian M, Sugg Sonia L, Weigel Ronald J, Lizarraga Ingrid M
Аннотация
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.
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.