RESUMO
A mastectomia preventiva relacionada às neoplasias de mama precoces é um tema de grande importância na área da oncologia, especialmente para mulheres com alto risco genético de desenvolver câncer de mama. Objetivo: Descrever como a mastectomia relaciona-se com a prevenção de neoplasias de mama precoces. Métodos: Trata-se de uma revisão integrativa da literatura. Para construção da pesquisa, a coleta e análise de dados foi realizada através do Portal da Biblioteca Virtual da Saúde e da base de dados Medical Literature Analysis and Retrievel System Online via PubMed, através dos Descritores em Ciências da Saúde (DeCS): "Mastectomia Profilática", "Neoplasias da Mama" e "Fatores de Risco" combinados entre si pelo operador booleano AND. Como critérios de inclusão: estudos relacionados à temática excluindo-se as revisões de literatura, com delimitação temporal dos últimos cinco anos, nos idiomas inglês, português e espanhol. A questão norteadora foi construída com base na estratégia PICo de acordo com a descrição (População, Interesse e Contexto). Resultados: Foram encontrados 76 artigos, destes 64 foram excluídos devido aos filtros utilizados e a leitura dos resumos e na íntegra, restando apenas 12 estudos para compor a amostra final. Em suma, os estudos demonstram que a mastectomia preventiva pode oferecer às mulheres com alto risco genético uma opção para reduzir suas chances de desenvolver câncer de mama. Conclusão: A mastectomia preventiva relacionada às neoplasias de mama precoces é uma opção terapêutica complexa e individualizada, que busca reduzir o risco de desenvolvimento ou recorrência do câncer de mama em mulheres de alto risco
: Preventive mastectomy related to early breast neoplasms is a topic of great concern in the field of oncology, especially for women with a high genetic risk of developing breast cancer. Objective: To describe how mastectomy is related to the prevention of early breast cancer. Methods: This is an integrative literature review. For the construction of the research, data collection and analysis was carried out through the Virtual Health Library Portal and the Medical Literature Analysis and Retrievel System Online database via PubMed, through the Health Sciences Descriptors (DeCS): "Prophylactic Mastectomy","Breast Neoplasms" and "Risk Factors" combined with the Boolean AND operator. As inclusion criteria: studies related to the theme excluding literature reviews,with publication time delimitation of the last five years, in English, Portuguese and Spanish. The research question was structured based on the PICo strategy according to the description (Population, Interest and Context). Results: 76 articles were found, of which 64 were excluded after the filters application. We performed the reading of abstracts and full text, and 12 studies were selected to compose the final sample. In summary, studies demonstrate that preventive mastectomy can offer women at high genetic risk an option to reduce their chances of developing breast cancer. Conclusion: Preventive mastectomy related to early breast neoplasms is a complex and individualized therapeutic option that seeks to reduce the risk of breast cancer development or recurrence in high-risk women
Assuntos
Humanos , Feminino , Neoplasias da Mama , Detecção Precoce de Câncer , Fatores de Risco , Mastectomia Profilática/psicologiaRESUMO
Objective: To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population. Case presentation: A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free. Conclusion: There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.
Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población. Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad. Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.
Assuntos
Neoplasias da Mama , Síndrome de Li-Fraumeni , Mastectomia Profilática , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/cirurgia , Feminino , Genes p53/genética , Humanos , Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/cirurgia , MastectomiaRESUMO
Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población. Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad. Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.
Objective: To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population. Case presentation: A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free. Conclusion: There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.
Assuntos
Feminino , Adulto , Neoplasias da Mama , Síndrome de Li-Fraumeni , Genes p53 , Mastectomia ProfiláticaRESUMO
Introducción: La mastectomía de reducción de riesgo contalateral (MRRC) es una procedimiento que ha ido incrementándose en los últimos años sin demostrar un claro beneficio en cuanto a supervivencia global. Este incremento paradójicamente se ve reflejado en pacientes con bajo riesgo de desarrollar un carcinoma de mama contralateral. Objetivo: El objetivo de este trabajo es analizar las características de las pacientes con diagnóstico de cáncer de mama unilateral, que optan por realizar MRRC y su calidad de vida, evaluado el procedimiento, la satisfacción global y el impacto que genera en las pacientes, tanto a nivel psicológico, cosmético, social y sexual. Material y método: Se realizó un estudio retrospectivo transversal de pacientes con diagnostico de cáncer de mama unilateral tratadas con mastectomía que optaron por realizar MRRC entre el año 2005 y octubre del año 2019. Se incluyeron 74 pacientes que realizaron MRRC. Resultados: La edad de las pacientes fue de 43.6 años. Dentro de nuestra casuística el 92.8% de las pacientes se encuentran satisfechas reflejando una buena calidad de vida. La totalidad de las pacientes volvería a optar por este procedimiento y están satisfechas con la decisión tomada. Por el contrario el 7.2% no se encuentran satisfechas, reflejándose negativamente en su bienestar sexual, imagen corporal y comodidad frente a una reunión social. Conclusiones: Si bien el grado de satisfacción en cuanto a la realización de la MRRC es elevado, hay que tener en cuenta que este procedimiento no está libre de complicaciones y efectos adversos los cuales impactan en diferentes aspectos psicosociales de las pacientes afectando así su calidad de vida, Es por esto que la decisión para realizar este procedimiento debe ser contemplada con cuidado asesorando a las pacientes e informando tanto los riesgos como los beneficios del mismo.
Introduction: Contralateral Prophylactic Mastectomy (CPM) it's a procedure that has been increasing in the last years, without demonstrating a clear benefit in overall survival. Paradoxically this increase is reflected in low risk patients who decide to undergo CPM. Objetive: The purpose of this study is to describe the characteristics of the patients with unilateral breast cancer who decide to undergo CPM, analyzing this procedure, evaluating quality of life, global satisfaction and the psychological, cosmetic social and sexual outcomes. Material and method: A restrospective trial was conducted on patients diagnosed with unilateral breast cancer, who underwent mastectomy and CPM between the year 2005 and october 2019. 74 patients were included in this tria. Results: The mean age of patients in this study was 43.6 years. In our study 92.8% of the patients were satisfied, reflecting this in their quality of life. All patients would choose this procedure again, and are satisfied with the decision they have mad. On the other end 7.2% were dissatisfied, reflecting this result negatively in their sexual well being, body image and comfort in social meeting. Conclusions: Although the rate of satisfaction with performance of CPM is elevated, we must consider that this procedure is not free of complications and adverse errects. In fact they do exist and they impact in different psychosocial aspect, and quality of lige. This is why the decision to carry out this procedure must be carefully considered, advising patients and informing both the risks and benefits of it.
Assuntos
Humanos , Feminino , Mastectomia , Satisfação Pessoal , Qualidade de Vida , Imagem Corporal , Neoplasias Unilaterais da Mama , Mastectomia ProfiláticaRESUMO
PURPOSE: The COVID-19 pandemic has impacted early breast cancer (EBC) treatment worldwide. This study analyzed how Brazilian breast specialists are managing EBC. METHODS: An electronic survey was conducted with members of the Brazilian Society of Breast Cancer Specialists (SBM) between April 30 and May 11, 2020. Bivariate analysis was used to describe changes in how specialists managed EBC at the beginning and during the pandemic, according to breast cancer subtype and oncoplastic surgery. RESULTS: The response rate was 34.4% (503/1462 specialists). Most of the respondents (324; 64.4%) lived in a state capital city, were board-certified as breast specialists (395; 78.5%) and either worked in an academic institute or one associated with breast cancer treatment (390; 77.5%). The best response rate was from the southeast of the country (240; 47.7%) followed by the northeast (128; 25.4%). At the beginning of the pandemic, 43% changed their management approach. As the outbreak progressed, this proportion increased to 69.8% (p < 0.001). The southeast of the country (p = 0.005) and the state capital cities (p < 0.001) were associated with changes at the beginning of the pandemic, while being female (p = 0.001) was associated with changes during the pandemic. For hormone receptor-positive tumors with the best prognosis (Ki-67 < 20%), 47.9% and 17.7% of specialists would recommend neoadjuvant endocrine therapy for postmenopausal and premenopausal women, respectively. For tumors with poorer prognosis (Ki-67 > 30%), 34% and 10.9% would recommend it for postmenopausal and premenopausal women, respectively. Menopausal status significantly affected whether the specialists changed their approach (p < 0.00001). For tumors ≥ 1.0 cm, 42.9% of respondents would recommend neoadjuvant systemic therapy for triple-negative tumors and 39.6% for HER2 + tumors. Overall, 63.4% would recommend immediate total breast reconstruction, while only 3.4% would recommend autologous reconstruction. In breast-conserving surgery, 75% would recommend partial breast reconstruction; however, 54.1% would contraindicate mammoplasty. Furthermore, 84.9% of respondents would not recommend prophylactic mastectomy in cases of BRCA mutation. CONCLUSIONS: Important changes occurred in EBC treatment, particularly for hormone receptor-positive tumors, as the outbreak progressed in each region. Systematic monitoring could assure appropriate breast cancer treatment, mitigating the impact of the pandemic.
Assuntos
Antineoplásicos Hormonais/uso terapêutico , Antineoplásicos/uso terapêutico , Neoplasias da Mama/terapia , Infecções por Coronavirus , Mamoplastia , Mastectomia , Terapia Neoadjuvante , Pandemias , Pneumonia Viral , Adulto , Betacoronavirus , Brasil , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , COVID-19 , Atenção à Saúde , Gerenciamento Clínico , Feminino , Genes BRCA1 , Genes BRCA2 , Humanos , Masculino , Mastectomia Segmentar , Pessoa de Meia-Idade , Seleção de Pacientes , Pós-Menopausa , Pré-Menopausa , Mastectomia Profilática , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , SARS-CoV-2 , Sociedades Médicas , Inquéritos e Questionários , Carga TumoralRESUMO
PURPOSE: Women with mutations in breast cancer predisposition genes have a significantly higher lifetime risk of developing breast cancer and can opt for risk-reducing mastectomy. Women with positive family history of cancer can also opt for prophylactic surgery as a preventive method in selected cases. Current studies showed reduced risk of developing breast cancer after prophylactic nipple-sparing mastectomy, however, despite the good clinical outcomes, one of the main concerns regarding nipple-sparing mastectomy (NSM) is the oncological safety of nipple-areola complex preservation. In this study, we aimed to evaluate the indications, complication rates, and unfavorable events of 62 Brazilian patients that underwent risk-reducing NSM from 2004 to 2018. METHODS: Patient data were reviewed retrospectively and descriptive statistics were utilized to summarize the findings. RESULTS: The mean patients age was 43.8 years. The main indication for risk-reducing NSM was the presence of pathogenic mutation (53.3%), followed by atypia or lobular carcinoma in situ (25.8), and family history of breast cancer and/or ovarian cancer (20.9%). There were four (3.2%) incidental diagnosis of ductal carcinoma in situ and one invasive ductal carcinoma (0.8%). From the 124 prophylactic NSM performed, two (1.6%) complications had occurred: one (0.8%) infection and one (0.8%) partial nipple necrosis. In a mean follow-up of 50 months, there was one (1.6%) newly diagnosed breast cancer in the 62 patients undergoing prophylactic NSM. CONCLUSIONS: Our findings demonstrated efficacy and safety to perform NSM as prophylactic surgery with good oncological outcomes and low complication rates in a case series of Brazilian patients.
Assuntos
Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/cirurgia , Carcinoma Intraductal não Infiltrante/cirurgia , Adulto , Brasil , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Carcinoma Intraductal não Infiltrante/patologia , Feminino , Seguimentos , Humanos , Mastectomia/métodos , Mastectomia/estatística & dados numéricos , Pessoa de Meia-Idade , Mamilos/patologia , Mamilos/cirurgia , Tratamentos com Preservação do Órgão/efeitos adversos , Tratamentos com Preservação do Órgão/métodos , Prognóstico , Mastectomia Profilática/efeitos adversos , Mastectomia Profilática/métodos , Estudos Retrospectivos , RiscoRESUMO
A Adenomastectomia (AM) tem sido cada vez mais indicada para fins terapêuticos e profiláticos devido aos melhores resultados cosméticos atingidos com a manutenção do complexo aréolo-papilar (CAP). Entretanto, a taxa de complicações pós-operatória relacionada à AM reportada na literatura pode chegar a 53%, e não há um consenso entre os seus fatores de risco. Ainda, nenhum estudo comparou as complicações pós-operatórias de pacientes submetidas a AM terapêutica e contralateral profilática no mesmo tempo operatório. Objetivos: o objetivo geral é de avaliar as características epidemiológicas das pacientes submetidas a AM no A.C.Camargo Cancer Center e a incidência das AM profiláticas (AMP) e AM terapêuticas (AMT) em 10 anos. O objetivo específico é de avaliar a taxa de complicações pós-operatórias e determinar quais foram seus fatores de risco. Materiais e Métodos: estudo retrospectivo de pacientes submetidas a AM no A.C.Camargo Cancer Center entre 2007 e 2017. Resultados: 367 AM foram realizadas em 290 pacientes, 74 AMP bilaterais, 16 AMT bilaterais, 64 AMT e AMP contralateral, 122 AMP unilaterais e 91 AMT unilaterais. Entre 2007-2009, foram realizadas 116 AMP e 20 AMT, entre 2010-2013, 40 AMP e 32 AMT, e entre 2014-2017, 71 AMP e 88 AMT. Entre as indicações das AMP aos dos 10 anos avaliados, houve redução progressiva devido o "histórico familiar de alto risco" e por desejo da paciente e aumento paulatino devido a mutações patogênicas. Quanto às complicações pós-operatórias, AMT e AMP contralateral no mesmo tempo operatório associou-se com maior chance de complicações pós-operatórias (OR 3.42, p 0.002), especialmente necrose do retalho cutâneo (OR 3.79, p 0.004), hematoma (OR 7.1, p 0.002), infecção de ferida operatória (FO) (OR 3.45, p 0.012) e perda do CAP (OR 9.63, p 0.003). AM unilateral associou-se com menores taxas de complicações pós-operatórias (OR 0.44, p 0.003), principalmente necrose do retalho cutâneo (OR 0.32, p 0.001), hematoma (OR 0.29, p 0.008), infecção de FO (OR 0.22, p 0.0001) e reoperações (OR 0.38, p 0.008). A lateralidade e a indicação das AM não se associaram ao atraso no início do tratamento adjuvante. Conclusões: ao longo dos 10 anos, houve aumento progressivo das AMT e das AMP baseadas no resultado do teste genético, em declínio das AMP baseadas no histórico familiar ou no desejo da paciente. Ainda, sugerimos que realizar AMT e AMP contralateral em tempos operatórios distintos pode ser uma estratégia para minimizar a chance de complicações pós-operatórias
Therapeutic and prophylactic nipple-sparing mastectomy (NSM) is increasingly indicated due to better cosmetic results of nipple maintenance. Nonetheless, post-operative complication rates are reported to be up to 53%, in addition to a lack of consensus of the risk factors. Up to date, no study has compared postoperative complications in patients who underwent simultaneous therapeutic and contralateral prophylactic NSM. Objectives: the general endpoint is to evaluate epidemiological characteristics of patients who underwent NSM at the A.C.Camargo Cancer Center and to determine the incidence of prophylactic NSM (PNSM) and therapeutic NSM (TNSM) over a 10 year period. The specific endpoint is to evaluate the incidence and the risk factors of NSM postoperative complications. Materials and Methods: This is a retrospective study of patients who underwent NSM between 2007 and 2017 at the A.C.Camargo Cancer Center. Results: 367 NSMs were performed in 290 patients, of which 74 bilateral PNSM, 16 bilateral TNSM, 64 simultaneous therapeutic and contralateral prophylactic NSM, 122 unilateral PNSM and 91 unilateral TNSM. From 2007 to 2009, 116 PNSM and 20 TNSM were performed, from 2010 to 2013, 40 PNSM and 32 TNSM, and from 2014 to 2017, 71 PNSM and 88 TNSM. In reference to PNSM indications, occurred a progressive reduction of PNSM due to positive family risk and patients' desire and a progressive increase of PNSM due to pathogenic genetic mutations. In reference to postoperative complications, therapeutic and contralateral prophylactic NSM performed in the same surgery was associated to more postoperative complications (OR 3.42, p0.002), mainly skin flap necrosis (OR 3.79, p 0.004), hematoma (OR 7.1, p 0.002), wound infection (OR 3.45, p 0.012), and NAC loss (OR 9.63, p 0.003). Unilateral NSM was associated to lower rates of postoperative complications (OR 0.44, p 0.003), especially skin flap necrosis (OR 0.32, p 0.001), hematoma (OR 0.29, p 0.008), wound infection (OR 0.22, p 0.0001) and reoperations (OR 0.38, p 0.008). Neither laterality nor indication of NSM were associated to delay in initiating adjuvant treatment. Conclusions: We observed an increase in TNSM and in PNSM due to genetic mutations, as well as a decline of PNSM based on family history or patients´ desire. In addition, our results suggest that performing therapeutic and contralateral prophylactic NSM at different operative times could be a good strategy to minimize chances of postoperative complications
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias da Mama , Mastectomia Subcutânea , Estudos Retrospectivos , Mastectomia Profilática , MutaçãoRESUMO
INTRODUCTION: Breast cancer (BC) is the leading cause of cancer death in Caribbean women. Across the Caribbean islands, the prevalence of hereditary breast cancer among unselected breast cancer patients ranges from 5 to 25%. Moreover, the prevalence of BC among younger women and the high mortality in the Caribbean region are notable. This BC burden presents an opportunity for cancer prevention and control that begins with genetic testing among high-risk women. Measured response to positive genetic test results includes the number of preventive procedures and cascade testing in family members. We previously reported data on an active approach to promote cascade testing in the Bahamas and report on preventive procedures showing moderate uptake. Here, we describe a clinically structured and community-partnered approach to the dissemination and follow-up of genetic test results including family counseling for the promotion of risk mitigation strategies and cascade testing in our Trinidadian cohort of patients tested positive for BC predisposition genes. METHODS: As a part of our initial study of BC genetic testing in Trinidad and Tobago, all participants received pre-test counseling including three-generation pedigree and genetic testing for BRCA1/2, PALB2, and RAD51C. The study was approved by the University of Miami IRB and the Ethics Committee of the Ministry of Health, Trinidad and Tobago. We prospectively evaluated a clinically structured approach to genetic counseling and follow-up of BC mutation carriers in Trinidad and Tobago in 2015. The intervention consisted of (1) engaging twenty-nine BC patients with a deleterious gene mutation (probands), and (2) invitation of their at-risk relatives to attend to a family counseling session. The session included information on the meaning of their results, risk of inheritance, risk of cancer, risk-reduction options, offering of cascade testing to family members, and follow-up of proband decision-making over two years. RESULTS: Twenty-four of twenty-nine mutation carriers (82.8%) consented to enroll in the study. At initial pedigree review, we identified 125 at-risk relatives (ARR). Seventy-seven ARR (62%) attended the family counseling sessions; of these, 76 ARR (99%) consented to be tested for their family gene mutation. Genetic sequencing revealed that of the 76 tested, 35 (46%) ARR were carriers of their family mutation. The ARR received their results and were urged to take preventative measures at post-test counseling. At 2-year follow-up, 6 of 21 probands with intact breasts elected to pursue preventive mastectomy (28.5%) and 4 of 20 women with intact ovaries underwent RRSO (20%). CONCLUSIONS: In Trinidad and Tobago, a clinically structured and partnered approach to our testing program led to a significant rate of proband response by completing the intervention counseling session, executing risk-reducing procedures as well as informing and motivating at-risk relatives, thereby demonstrating the utility and efficacy of this BC control program.
Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Análise de Sequência de DNA/métodos , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico , Proteínas de Ligação a DNA/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Pessoa de Meia-Idade , Linhagem , Mastectomia Profilática/estatística & dados numéricos , Estudos Prospectivos , Trinidad e Tobago/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: Women who have mutations in BRCA genes have a high risk of developing breast cancer. Therefore, multiple preventive strategies have been proposed, within which is prophylactic mastectomy. Considering physical and psychological effects of surgery, the controversy is established as to whether the preventive effect exceeds that of active vigilance. METHODS: To answer this question we used Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We extracted data from the systematic reviews, reanalyzed data of primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. RESULTS AND CONCLUSIONS: We identified 13 systematic reviews including 50 studies overall. We concluded prophylactic mastectomy is associated with frequent adverse effects, but probably reduces the incidence of breast cancer and decreases mortality, in addition to being associated with high levels of satisfaction.
INTRODUCCIÓN: Las mujeres que poseen mutaciones en genes BRCA tienen un alto riesgo de desarrollar cáncer de mama. Por lo anterior, se han planteado múltiples estrategias preventivas dentro de las cuales se encuentra la mastectomía profiláctica. Existe controversia sobre si los beneficios de esta intervención superan al de una vigilancia activa, en especial considerando el impacto físico y psicológico asociado. MÉTODOS: Para responder esta pregunta utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, analizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES: Identificamos 13 revisiones sistemáticas que en conjunto incluyen 50 estudios primarios. Concluímos que si bien la mastectomía profiláctica se asocia a efectos adversos frecuentes, reduce la incidencia de cáncer de mama y la mortalidad, y podría asociarse a altos niveles de satisfacción.