Caracterización de Pacientes con Cáncer de Mama y Criterios de la National Comprehensive Cancer Network para Realizar Prueba Genética de BRCA1 y BRCA2
DOI:
https://doi.org/10.32635/2176-9745.RBC.2023v69n4.4214Palabras clave:
neoplasias da mama, neoplasias ovarianas, síndrome hereditária de câncer de mama e ovário, genes, BRCA1Resumen
Introducción: Aproximadamente el 10% de los casos de cáncer de mama son atribuibles a mutaciones germinales en genes de susceptibilidad, incluidos BRCA1 y BRCA2. La National Comprehensive Cancer Network (NCCN) recomienda la detección de mutaciones BRCA1/2 en mujeres con cáncer de mama en entornos definidos. Sin embargo, estas pruebas genéticas no están disponibles en el Sistema Único de Salud (SUS). Objetivo: Caracterizar mujeres con cáncer de mama y definir los criterios para la realización de la prueba BRCA1/2. Método: Estudio cuantitativo, descriptivo, analítico y retrospectivo. Las historias clínicas de las mujeres diagnosticadas con cáncer de mama entre enero de 2016 y diciembre de 2018, usuarias del SUS, fueron analizadas mediante el software JAMOVI (versión 2.3 - 2022). Resultados: 245 mujeres fueron diagnosticadas. Según las pautas de NCCN, 97 mujeres cumplieron con los criterios para someterse a la prueba BRCA1/2. Las mujeres con indicación para la prueba tenían un promedio de edad de 47 años, eran predominantemente blancas (90,7%), con comorbilidades (55,6%), premenopáusicas (59,8%), diagnosticadas en estadios tempranos 0 - IIb (68,2%) y 48,4% tenía antecedentes familiares de cáncer de mama. Los subtipos histológicos y moleculares más frecuentes fueron el carcinoma ductal invasivo (87,2%) y el tipo luminal (59,8%). Conclusión: Considerando los criterios de la NCCN, un número significativo de mujeres, usuarias del SUS, fueron designadas para hacer la prueba BRCA1/2. Estas mujeres son más jóvenes, tienen menos comorbilidades, están en el periodo de la premenopausia con mayor frecuencia y difieren en el subtipo molecular en comparación con aquellas sin orden de realizarse la prueba.
Descargas
Citas
Global Cancer Observatory [Internet]. Lyon: GLOBOCAN; [data desconhecida]. Breast cancer. 2023 jul 12. [acesso 2023 ago 20]. Disponível em https://www.who.int/news-room/fact-sheets/detail/breast-cancer
Santos MO, Lima FCS, Martins LFL, et al. Estimativa de incidência de câncer no Brasil, 2023-2025. Rev Bras Cancerol. 2023;69(1):e-213700. doi: https://doi.org/10.32635/2176-9745.RBC.2023v69n1.3700 DOI: https://doi.org/10.32635/2176-9745.RBC.2023v69n1.3700
DeVita Junior VT, Lawrence ST, Rosenberg SA. Cancer principles & practice of oncology. 9 ed. Filadélfia: Lippincott Williams & Wilkins; 2011.
Chlebowski RT. Factors that modify breast câncer risk in women [Internet]. [acesso 2022 ago 20]. Disponível em https://www.uptodate.com/contents/factors-that-modify-breast-cancer-risk-in-women.
Negritto MC. Repairing double-strand DNA breaks. Nature Educ. 2010;3(9):26.
Li S, Silvestri V, Leslie G, et al. Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. J Clin Oncol. 2022;40(14):1529-41. DOI: https://doi.org/10.1200/JCO.21.02112
Shubeck S, Sevilimedu V, Berger E, et al. Comparison of outcomes between BRCA pathogenic variant carriers undergoing breast-conserving surgery versus mastectomy. Ann Surg Oncol. 2022;29(8):4706-13. DOI: https://doi.org/10.1245/s10434-022-11756-1
Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402-16. doi: https://www.doi.org.br/10.1001/jama.2017.7112
Wei G, Kumar A, Lee MC, et al. Influential factors on risk-reduction mastectomy in a high-risk breast cancer population with genetic predispositions. Clin Breast Cancer. 2021;21(4):e427-33. doi: https://www.doi.org.br/10.1016/j.clbc.2021.01.008 DOI: https://doi.org/10.1016/j.clbc.2021.01.008
Conduit C, Milne RL, Friedlander ML, et al. Bilateral salpingo-oophorectomy and breast cancer risk for BRCA1 and BRCA2 mutation carriers: assessing the evidence. Cancer Prev Res (Phila). 2021;14(11):983-94. doi: https://www.doi.org.br/10.1158/1940-6207.CAPR-21-0141 DOI: https://doi.org/10.1158/1940-6207.CAPR-21-0141
Loizzi V, Cicinelli E, Del Vecchio V, et al. A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients. Acta Biomed. 2022;93(4):e2022051.
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. genetic/familial high-risk assessment: breast, ovarian, and pancreatic [Internet]. Version 2.2022 [acesso 2022 set 4]. Disponível em https://www.melbournebreastcancersurgery.com.au/wp-content/themes/
Esserman L, Kaklamani V. Lessons learned from genetic testing. JAMA. 2010;304(9):1011-2. doi: https://doi.org/10.1001/jama.2010.1263 DOI: https://doi.org/10.1001/jama.2010.1263
Alemar B, Herzog J, Brinckmann Oliveira Netto C, et al. Prevalence of hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer from brazil reveals differences among latin american populations. Cancer Genetics. 2016;209(9):417. DOI: https://doi.org/10.1016/j.cancergen.2016.06.008
Lourenção M, Simões Correa Galendi J, Galvão HCR, et al. Cost-Effectiveness of BRCA 1/2 genetic test and preventive strategies: using real-world data from and upper-middle income country. Front Oncol. 2022;12:1. doi: https://doi.org/10.3389/fonc.2022.951310 DOI: https://doi.org/10.3389/fonc.2022.951310
Achatz MI, Caleffi M, Guindalini R, et al. Recommendations for advancing the diagnosis and management of hereditary breast and ovarian cancer in Brazil. JCO Glob Oncol. 2020;6:439. DOI: https://doi.org/10.1200/JGO.19.00170
Organização Mundial da Saúde. CID-10: Classificação Estatística Internacional de Doenças e problemas relacionados à saúde. São Paulo: Edusp; 2008.
Jamovi project [Internet]. Version 2.3. Sydney: Jamovi; 2022. [acesso 2022 set 4]. Available from: https://www.jamovi.org
Conselho Nacional de Saúde (BR). Resolução n° 466, de 12 de dezembro de 2012. Aprova as diretrizes e normas regulamentadoras de pesquisas envolvendo seres humanos. Diário Oficial da União, Brasília, DF. 2013 jun 13; Seção I:59.
Brierley JD, Gospodarowicz MK, Wittekind C. TNM Classification of Malignant Tumours. 8 ed. Hoboken: Wiley-Blackwell; 2016. DOI: https://doi.org/10.1002/9780471420194.tnmc26.pub3
Instituto Nacional de Câncer José Alencar Gomes da Silva. A situação do câncer de mama no brasil: síntese de dados dos sistemas de informação. Rio de Janeiro: INCA; 2019. [acesso 2023 ago 31]. [disponível em https://www.inca.gov.br/sites/ufu.sti.inca.local/files/media/document/a_situacao_ca_mama_brasil_2019.pdf
Rodrigues GM, Carmo CN, Bergmann A, et al. Desigualdades raciais no estadiamento clínico avançado em mulheres com câncer de mama atendidas em hospital de referência no Rio de Janeiro, Brasil. Saúde Soc. 2021;30(3):1. doi: https://doi.org/10.1590/S0104-12902021200813 DOI: https://doi.org/10.1590/s0104-12902021200813
Richardson LC, Henley SJ, Miller JW, et al. Patterns and Trends in Age-Specific Black-White Differences in Breast Cancer Incidence and Mortality - United States, 1999-2014. MMWR Morb Mortal Wkly Rep. 2016;65(40):1093. doi: https://doi.org/15585/mmwr.mm6540a1 DOI: https://doi.org/10.15585/mmwr.mm6540a1
Amin MB, Edge SB, Greene FL et al. Breast Cancer. In: Mahul AB, editor. American Joint Committee on Cancer Staging Manual. 8 ed. Escócia: Springer, 2018.
Joe BN. Clinical features, diagnosis and staging of newly diagnosed breast cancer [Internet]. [acesso 2022 ago 31]. Disponível em https://www.uptodate.com/contents/clinical-features-diagnosis-and-staging-of-newly-diagnosed-breast-cancer?search=breast%20cancer&source=search_result&selectedTitle=2~150&usage_type=default&display_rank=2
Parise CA, Bauer KR, Brown MM, et al. Breast cancer subtypes as defined by the estrogen receptor (ER), progesterone receptor (PR) and the human epidermal growth factor receptor 2 (HER2) among women with breast cancer in California, 1999-2004. Breast J. 2009;15(6):593. DOI: https://doi.org/10.1111/j.1524-4741.2009.00822.x
Borges RSS, Silva LG, Vilaca MN, et al. Prevalence of germline testing criteria in breast cancer patients in the brazillian public health system: a retrospective study. Am. j. clin. oncol. 2021;39(15Sup):10597. DOI: https://doi.org/10.1200/JCO.2021.39.15_suppl.10597
Desai NV, Yadav S, Batalini F, et al. Germline genetc testing in breast cancer: rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years. Cancer. 2021;127(6):828-33. doi: https://doi.org/10.1002/cncr.33305 DOI: https://doi.org/10.1002/cncr.33305
Bluethmann SM, Mariotto BA, Rowland JH. Anticipating the "silver tsunami": prevalence trajectories and comorbidity burden among older cancer survivors in the united states. Cancer Epidemiol Biomarkers Prev. 2016;25(7):1029-36. doi: https://doi.org/10.1158/1055-9965.EPI-16-0133 DOI: https://doi.org/10.1158/1055-9965.EPI-16-0133
Descargas
Publicado
Cómo citar
Número
Sección
Licencia
Os direitos morais e intelectuais dos artigos pertencem aos respectivos autores, que concedem à RBC o direito de publicação.
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
