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Revista Médica del Uruguay

versão impressa ISSN 0303-3295versão On-line ISSN 1688-0390


ACEVEDO, Carlos et al. Magnetic resonance imaging breast cancer screening in women who are carriers of BRCA and non-BRCA gene mutations. Rev. Méd. Urug. [online]. 2022, vol.38, n.4, e206.  Epub 01-Dez-2022. ISSN 0303-3295.


genetic propensity caused by germline pathogenic mutations explain up to 10% of breast cancer cases. Different strategies have been proposed to reduce its impact on women who are carriers of mutations, such as risk-reducing surgeries or breast magnetic resonance screening.


observational, retrospective study analyzing the medical records of women who are carriers of germline pathogenic mutations to assess the different measures taken after the genetic test. Non-mastectomized patients were advised to join an annual MRI screening program and the percentage of adherence to plan was evaluated, along with biopsies performed and the number of breast cancer cases detected.


134 women carriers of germline pathogenic mutations were included in the study, with equal distributions in thirds for BRCA1, BRCA2 and non-BRCA genes. 64% of carriers of mutations who were subject to follow-up checkups joined the RMI screening program. The reasons why women failed to join the follow-up program were: the treating physician objected to the program (53%), the patients opposed to program (38%) and lack of resources (9%). Six biopsies were performed as a consequence of findings in the RMI, and one case of breast cancer was detected. Cancer incidence was 11 out of 1000 women - risk years.


our RMI follow-up program for women who are carriers of mutations managed to attract a high percentage of candidates. A significant amount of women failed to join the program because of their treating physician’s or their own disapproval. Evidence obtained reveals the dramatic need to reinforce educational programs that emphasize on the importance of RMI follow-up of high risk patients in our country.

Palavras-chave : Breast neoplasms; Magnetic resonance; BRCA1 Genes; BRCA2 Genes; Mutation; Women.

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