CLINICAL GUIDE FOR THE IDENTIFICATION AND COUNSELING OF CARRIERS OF MUTATIONS IN THE BRCA1 AND BRCA2 GENES
Keywords:
Breast câncer, Ovarian câncer, Genetic counseling, BRCA1, BRCA2Abstract
The syndrome of hereditary breast and ovarian câncer (SHBOC), caused by mutations
in the genes BRCA1 e BRCA2, is responsible for approximately 4% of ali cases of breast
câncer. The ascertainment of families with SHBOC and counseling of the healthy carrier of a
mutation in BRCA1 or BRCA2 have great importance in the prevention of new cases of breast
and ovarian câncer. In this article, using a real case as an example of proper and efficient management, we provide a practical clinicai guide for use by the breast specialist in dealing with
the SHBOC. We first discuss the identification of high risk families, then we explain how to
ask for a genetic test of BRCA1/BRCA2, how to interpret the laboratory results and how to
do further testing in healthy family members at risk of carrying mutations and we move on
to describe the process clinicai and genetic post-test counseling. Finally, we emphasize that
there are significant complexities inherent in the testing process, especially in the evaluation
of the clinicai meaning of mutations and in the final counseling of patients. Thus, we recommend that this evaluation be done by breast specialists and geneticists as a team.
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Copyright (c) 2026 Sérgio D. J. Pena
This work is licensed under a Creative Commons Attribution 4.0 International License.
