Mapeo genético del cáncer de mama: cuantificación de la solicitud por oncólogos, mastólogos y genetistas en Goiás
DOI:
https://doi.org/10.66104/qhx4xy11Palabras clave:
Cáncer de Mama, Genes BRCA1, Genes BRCA2, Pruebas GenéticasResumen
El cáncer de mama es una neoplasia de impacto significativo en la salud pública, con una parte de los casos asociada a factores hereditarios, principalmente mutaciones en los genes BRCA1 y BRCA2. El estado de Goiás se convirtió en pionero en Brasil al instituir, por medio de la Ley n.º 20.707/2020, el acceso gratuito a la prueba genética para estas mutaciones en el Sistema Único de Salud (SUS). Este estudio investiga la integración de este mapeo genético desde la perspectiva de los médicos especialistas locales. Se realizó un estudio observacional, transversal, con una muestra por conveniencia de 16 médicos (oncólogos, mastólogos y genetistas) que ejercen en Goiás. Se utilizó un cuestionario electrónico estructurado para evaluar el conocimiento, la frecuencia de uso y las barreras percibidas en relación con el mapeo genético. Los datos se analizaron mediante estadística descriptiva. La mayoría de los participantes (93,8%) informó conocer el mapeo genético, pero solo el 50% lo utiliza con frecuencia. Los principales criterios clínicos para solicitar la prueba fueron diagnóstico antes de los 40 años, antecedente familiar directo y tumor triple negativo antes de los 50 años. Las barreras más citadas para no utilizar la prueba fueron la percepción de baja utilidad (31,3%) y las lagunas en el asesoramiento genético. Los resultados señalan una discrepancia entre el conocimiento teórico sobre la prueba y su aplicación práctica en la rutina clínica. Barreras actitudinales y operativas, como la falta de familiaridad con el asesoramiento genético, parecen limitar la incorporación efectiva de esta herramienta, incluso con su disponibilidad legal. Se concluye que la implementación efectiva del mapeo genético para cáncer de mama en Goiás depende no solo del acceso a la prueba, sino también de la superación de barreras prácticas mediante capacitación profesional y la estructuración de flujos de asesoramiento genético.
Descargas
Referencias
AHMED, Z. Precision medicine with multi-omics strategies, deep phenotyping, and predictive analysis. Progress in Molecular Biology and Translational Science, v. 190, n. 1, p. 101–125, 1 jan. 2022. DOI: https://doi.org/10.1016/bs.pmbts.2022.02.002
ALMOMANI, B. A. et al. The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: a questionnaire-based study. PLOS ONE, v. 15, n. 6, p. e0235001, 19 jun. 2020. DOI: https://doi.org/10.1371/journal.pone.0235001
ASSAD, H. et al. Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center. Breast Cancer Research and Treatment, v. 206, n. 2, p. 261–272, 12 abr. 2024. DOI: https://doi.org/10.1007/s10549-024-07283-0
BAGWELL, A. K. et al. Outcomes of large panel genetic evaluation of breast cancer patients in a community-based cancer institute. American Journal of Surgery, v. 221, n. 6, p. 1159–1163, jun. 2021. DOI: https://doi.org/10.1016/j.amjsurg.2021.03.060
BILENDUKE, E. et al. A practical method for integrating community priorities in planning and implementing cancer control programs. Cancer Causes & Control, v. 34, supl. 1, p. 113–123, 18 abr. 2023. DOI: https://doi.org/10.1007/s10552-023-01688-w
BRASIL. Ministério da Saúde. Câncer de mama. Disponível em: https://www.gov.br/saude/pt-br/assuntos/saude-de-a-a-z/c/cancer-de-mama.
BRASIL. Ministério da Saúde. Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA). Diretrizes para a detecção precoce do câncer de mama no Brasil. Rio de Janeiro: Ministério da Saúde, 2015.
BRASIL. Ministério da Saúde. Instituto Nacional de Câncer (INCA). Cartilha câncer de mama. 7. ed. Rio de Janeiro: INCA, 2022. Disponível em: https://www.inca.gov.br/sites/ufu.sti.inca.local/files//media/document//cartilha_cancer_de_mama_2022_visualizacao.pdf
CÂNCER - OPAS/OMS. Organização Pan-Americana da Saúde. Disponível em: https://www.paho.org/pt/topicos/cancer.
CÂNCER de mama agora forma mais comum de câncer: OMS tomando medidas. Disponível em: https://www.who.int/pt/news/item/03-02-2021-breast-cancer-now-most-common-form-of-cancer-who-taking-action.
CARVALHO, Versanna. Goiás e UFG oferecem teste genético em câncer de mama herdado. Disponível em: https://ufg.br/n/175465-goias-e-ufg-oferecem-teste-genetico-em-cancer-de-mama-herdado.
CHEHADE, C. H. et al. Trends and disparities in next-generation sequencing in metastatic prostate and urothelial cancers. JAMA Network Open, v. 7, n. 7, p. e2423186, 18 jul. 2024. DOI: https://doi.org/10.1001/jamanetworkopen.2024.23186
CONNER, S. et al. Primary care provider practices, attitudes, and confidence with hereditary cancer risk assessment and testing: a mixed methods study. Genetics in Medicine, v. 27, n. 4, p. 101307, 1 out. 2024. DOI: https://doi.org/10.1016/j.gim.2024.101307
CRISCITIELLO, C.; CORTI, C. Breast cancer genetics: diagnostics and treatment. Genes, v. 13, n. 9, p. 1593, 2022. DOI: https://doi.org/10.3390/genes13091593
GOLD, J. I. et al. Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population. The American Journal of Human Genetics, v. 113, n. 1, p. 29–40, jan. 2026. DOI: https://doi.org/10.1016/j.ajhg.2025.11.010
GOIÁS. Lei n. 20.707, de 14 de janeiro de 2020. Dispõe sobre a realização do exame de detecção de mutação genética que especifica.
HERZOG, J. S. et al. Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America. npj Breast Cancer, v. 7, n. 1, p. 1–8, 19 ago. 2021. DOI: https://doi.org/10.1038/s41523-021-00317-6
INTERNATIONAL AGENCY FOR RESEARCH ON CANCER (IARC). Global cancer observatory. Disponível em: https://gco.iarc.who.int/en.
KHOURY, M. J. et al. Health equity in the implementation of genomics and precision medicine: a public health imperative. Genetics in Medicine, v. 24, n. 8, abr. 2022. DOI: https://doi.org/10.1016/j.gim.2022.04.009
LASTA, J. L.; GROTO, A. D.; PAULA, A. Assessment of medical knowledge toward genetic testing for individuals with hereditary breast and ovarian cancer syndrome in Brazil. Preventive Medicine Reports, v. 35, p. 102356, 2 ago. 2023. DOI: https://doi.org/10.1016/j.pmedr.2023.102356
LI, S. et al. Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. Journal of Clinical Oncology, v. 40, n. 14, 25 jan. 2022.
MATALON, D. R. et al. Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, v. 25, n. 6, p. 100812, jun. 2023. DOI: https://doi.org/10.1016/j.gim.2023.100812
MOMOZAWA, Y. et al. Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants. JAMA Oncology, v. 8, n. 6, p. 871, 1 jun. 2022. DOI: https://doi.org/10.1001/jamaoncol.2022.0476
NATIONAL COMPREHENSIVE CANCER NETWORK (NCCN). Guidelines for patients details. Disponível em: https://www.nccn.org/patientresources/patient-resources/guidelines-for-patients/guidelines-for-patients-details?patientGuidelineId=77.
NEVES, N. M. B. C. et al. Implicações éticas dos testes genéticos de suscetibilidade ao câncer de mama. Revista Bioética, v. 30, n. 3, p. 636–643, set. 2022. DOI: https://doi.org/10.1590/1983-80422022303557en
NISSELLE, A. et al. Measuring physician practice, preparedness and preferences for genomic medicine: a national survey. BMJ Open, v. 11, n. 7, p. e044408, 1 jul. 2021. DOI: https://doi.org/10.1136/bmjopen-2020-044408
PILARSKI, R. How have multigene panels changed the clinical practice of genetic counseling and testing. Journal of the National Comprehensive Cancer Network, v. 19, n. 1, p. 103–108, 6 jan. 2021. DOI: https://doi.org/10.6004/jnccn.2020.7674
REDE NACIONAL DE CÂNCER FAMILIAL. Disponível em: https://www.inca.gov.br/publicacoes/manuais/rede-nacional-de-cancer-familial.
SCHAIBLEY, V. M. et al. Limited genomics training among physicians remains a barrier to genomics-based implementation of precision medicine. Frontiers in Medicine, v. 9, 18 mar. 2022. DOI: https://doi.org/10.3389/fmed.2022.757212
VAN, S. C. et al. Disparities in OncotypeDx testing and subsequent chemotherapy receipt by geography and socioeconomic status. Cancer Epidemiology, Biomarkers & Prevention, v. 33, n. 5, 25 jan. 2024. DOI: https://doi.org/10.1158/1055-9965.EPI-23-1201
WANG, R.; WANG, Z. Precision medicine: disease subtyping and tailored treatment. Cancers, v. 15, n. 15, p. 3837, 28 jul. 20 DOI: https://doi.org/10.3390/cancers15153837
Descargas
Publicado
Número
Sección
Licencia
Derechos de autor 2026 Pedro Henrique Paulino Pereira de Souza, Isadora Alves Gamboa, Amanda Vitoria de Oliveira Lima, João Victor Martins Bordigoni, Ysabelle de Oliveira Saraiva , Aline de Araújo Freitas, Alisson Martins de Oliveira, Jalsi Tacon Arruda
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
Authors who publish in this journal agree to the following terms:
Authors retain copyright and grant the journal the right of first publication, with the work simultaneously licensed under the Creative Commons Attribution License, which permits the sharing of the work with proper acknowledgment of authorship and initial publication in this journal;
Authors are authorized to enter into separate, additional agreements for the non-exclusive distribution of the version of the work published in this journal (e.g., posting in an institutional repository or publishing it as a book chapter), provided that authorship and initial publication in this journal are properly acknowledged, and that the work is adapted to the template of the respective repository;
Authors are permitted and encouraged to post and distribute their work online (e.g., in institutional repositories or on their personal websites) at any point before or during the editorial process, as this may lead to productive exchanges and increase the impact and citation of the published work (see The Effect of Open Access);
Authors are responsible for correctly providing their personal information, including name, keywords, abstracts, and other relevant data, thereby defining how they wish to be cited. The journal’s editorial board is not responsible for any errors or inconsistencies in these records.
PRIVACY POLICY
The names and email addresses provided to this journal will be used exclusively for the purposes of this publication and will not be made available for any other purpose or to third parties.
Note: All content of the work is the sole responsibility of the author and the advisor.
