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Revista Médica del Uruguay

versión impresa ISSN 0303-3295versión On-line ISSN 1688-0390

Resumen

MALVASIO, Silvina et al. BRCA1 tumor expression and clinical results in uruguayan patients diagnosed with breast cancer before the age of 40 years old. Rev. Méd. Urug. [online]. 2020, vol.36, n.1, pp.123-152.  Epub 01-Mar-2020. ISSN 0303-3295.  http://dx.doi.org/10.29193/rmu.36.1.6.

BRCA1 mutations are rare in sporadic breast cancer (CM), however their expression at the tumor level is diminished or absent in 30-50% of cases.

Objective:

to assess the tumor expression of BRCA1 using immunohistochemistry (IHC) in Uruguayan women diagnosed with BC before the age of 40 years.

Material and methods:

patients diagnosed with BC before the age of 40 between. The antibodies used were anti BRCA1 MS110 monoclonal antibodies against the N-terminal end and GLK-2 against the C-terminal. Overall survival (OS) and disease free survival (DFS) were calculated; the curves were developed using the Kaplan-Meier method and the difference in survival was evaluated through the log rank test.

Results:

the average age of the 40 patients included was 36 years. The 5-year OS and DFS were 73% and 60% respectively. The expression of BRCA1 with GLK-2 was <10% in 16 of the 40 patients included (40%). The 5-year OS and DFS for patients with <10% expression was 56% vs. 85% for patients with >10% (p=0.015) and 40% vs. 72% (p = 0.034) respectively. The expression of BRCA1 by MS110 was <10% in 11 of the 40 patients included (27.5%). No differences were found in the 5-year OS or DFS based on the expression of this marker.

Conclusion:

The loss of BRCA1 expression using GLK-2, which suggests the presence of a truncated protein, was associated with a statistically significantly lower OS and DFS, that the decrease in the BRCA1 protein as determined by GLK2 has an unfavorable prognostic value for young patients with BC.

Palabras clave : Breast neoplasms; BRCA1 genes; Immunohistochemistry; Young women.

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