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Ginecología y obstetricia de México

versão impressa ISSN 0300-9041

Resumo

ULLOA-MIRANDA, Miguel Ángel et al. Incidence of genetic mutations in patients with breast cancer and ovarian cancer with hereditary pattern. Ginecol. obstet. Méx. [online]. 2020, vol.88, n.2, pp.92-97.  Epub 30-Ago-2021. ISSN 0300-9041.  https://doi.org/10.24245/gom.v88i2.3427.

OBJECTIVE:

To determine the genetic mutations in hereditary pattern breast cancer and demonstrate whether there is a significant association between the most common in the Mexican population and the risk of suffering it.

MATERIALS AND METHODS:

Cross-sectional and observational study conducted at the Hospital Angeles México in coordination with the National Institute of Genomic Medicine. Inclusion criteria: patients with breast cancer and one or more first-degree relatives affected by this disease and patients with ovarian cancer. Exclusion criteria: patients without a history of breast or ovarian cancer, or with a family member in the protocol. The RT2 Profiler plate rearrangement technique was used for Master-Mix Quantinova probe PCR kit. The SPSS version 22 program and Epi Info version 7 were used for the statistical analysis.

RESULTS:

39 patients with an average age of 53.2 ± 12.1 years were studied. Progesterone and estrogen receptors showed no difference between groups. There was a greater trend for BRCA1. When studying the mutations with statistical significance, in which the cases of BRCA2 versus without significance and the negative cases stood out, there was no significant statistical difference, but with a tendency to higher frequency of BCRA1. When evaluating breast cancer lines and nuclear grades compared by age, the three nuclear grade groups compared by age showed differences.

CONCLUSION:

The data obtained show that in the Mexican population the BRCA2 gene has a higher incidence in hereditary cancer, at an age of earlier onset and greater nuclear grade at the time of diagnosis.

Palavras-chave : Genetic mutations; Breast cancer; Ovarian cancer; Genes BRCA2; Receptors, estrogen; Breast cancer, familiar; Predisposition to disease.

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