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BACKGROUND: The coronavirus 2019 (COVID-19) pandemic impacted cancer health care in several countries, with delays in the detection and treatment of breast and cervical cancer. The objective of this study is to analyze and compare the screening, diagnosis and treatment of breast and cervical cancer in the pre-COVID period and during the COVID-19 period. METHODS: Cross-sectional study with secondary data collected from the Mortality Information System (SIM), Hospital Information System (SIH), Ambulatory Information System (SIA) and the Oncology Panel (PO) of breast cancer notifications with ICD C50.0 to C50.9 and cervix ICD C53.0 to C53.9, The analyzed period before the pandemic was from March 1 to October 1, 2019, and during the pandemic from March 1 to October 1, 2020. The period from 2013 to 2022 was also analyzed with the same information, including the number of diagnoses, treatments, and deaths from breast cancer and cervical cancer. The study population consisted of Brazilian women aged 25 to 70 years. In order to compare categorical variables between periods, the Chi-Square or Fisher's Exact tests, and Mann-Whitney U tests were applied, and the Poisson Regression model was applied to model the number of reported cases of COVID-19 and the amount of procedures. RESULTS: There was a decrease in the number of mammograms and cytopathological exams during COVID-19, as well as a decrease in cases of breast and cervical cancer. The Poisson regression showed that the increase in the number of COVID-19 cases caused a decrease in the number of breast cytopathological examinations, cervical-vaginal cytopathological examinations/microflora and screening, diagnosis, initiation of treatment for breast cancer and deaths from this disease. Meanwhile, in some regions of Brazil, as the number of Covid-19 increased, there was a significantly increase in the number of mammograms performed and cervical cancer diagnoses. CONCLUSIONS: The COVID-19 period in 2020 significantly impacted screening, diagnosis, treatment for breast and cervical cancer.
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Neoplasias de la Mama , COVID-19 , Detección Precoz del Cáncer , Neoplasias del Cuello Uterino , Humanos , Femenino , COVID-19/epidemiología , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/epidemiología , Neoplasias del Cuello Uterino/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/patología , Persona de Mediana Edad , Estudios Transversales , Adulto , Brasil/epidemiología , Anciano , Detección Precoz del Cáncer/estadística & datos numéricos , SARS-CoV-2RESUMEN
OBJECTIVE: To assess the influence of the COVID-19 pandemic on breast cancer screening. METHODS: This was a cross-sectional and retrospective study, which used data extracted from "TABNET" between 2014 to 2020. Statistical analysis was carried out using the ANOVA model. RESULT: In 2019, a total of 3,068,776 mammograms were conducted, which significantly decreased to 1,808,765 in 2020. Since the onset of the pandemic in Brazil in March 2020, there has been a reduction in the number of mammograms performed. Mammography coverage increased from 0.11 to 0.18 between 2014 and 2019 but sharply declined from 0.18 to 0.10 between 2019 and 2020. CONCLUSION: The COVID-19 pandemic has had a detrimental impact on breast cancer screening efforts, especially in detecting the disease in early stages. Health services shifted their focus towards caring for COVID-19 patients, therefore neglecting routine screening programs and interventions. Additionally, the population's fear of contagion contributed to a decrease in demand for screening tests.
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Neoplasias de la Mama , COVID-19 , Detección Precoz del Cáncer , Mamografía , SARS-CoV-2 , Humanos , COVID-19/epidemiología , Femenino , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Mamografía/estadística & datos numéricos , Detección Precoz del Cáncer/estadística & datos numéricos , Detección Precoz del Cáncer/métodos , Estudios Transversales , Estudios Retrospectivos , Brasil/epidemiología , Persona de Mediana Edad , Adulto , Tamizaje Masivo/métodos , AncianoRESUMEN
We introduce a new modelling for long-term survival models, assuming that the number of competing causes follows a mixture of Poisson and the Birnbaum-Saunders distribution. In this context, we present some statistical properties of our model and demonstrate that the promotion time model emerges as a limiting case. We delve into detailed discussions of specific models within this class. Notably, we examine the expected number of competing causes, which depends on covariates. This allows for direct modeling of the cure rate as a function of covariates. We present an Expectation-Maximization (EM) algorithm for parameter estimation, to discuss the estimation via maximum likelihood (ML) and provide insights into parameter inference for this model. Additionally, we outline sufficient conditions for ensuring the consistency and asymptotic normal distribution of ML estimators. To evaluate the performance of our estimation method, we conduct a Monte Carlo simulation to provide asymptotic properties and a power study of LR test by contrasting our methodology against the promotion time model. To demonstrate the practical applicability of our model, we apply it to a real medical dataset from a population-based study of incidence of breast cancer in São Paulo, Brazil. Our results illustrate that the proposed model can outperform traditional approaches in terms of model fitting, highlighting its potential utility in real-world scenarios.
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Biometría , Neoplasias de la Mama , Modelos Estadísticos , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/terapia , Humanos , Biometría/métodos , Femenino , Método de Montecarlo , Funciones de Verosimilitud , Análisis de Supervivencia , AlgoritmosRESUMEN
BACKGROUND: Breast and cervical cancer are major public health issues globally. The reduction in incidence and mortality rates of these cancers is linked to effective prevention, early detection, and appropriate treatment measures. This study aims to analyze the temporal trends in the prevalence of mammography and Papanicolaou test coverage among women living in Brazilian state capitals between 2007 and 2023, and to compare the coverage of these tests before and during the Covid-19 pandemic. METHODS: A time series study was conducted using data from the Surveillance System for Risk and Protective Factors for Chronic Diseases by Telephone Survey from 2007 to 2023. The variables analyzed included mammography and Papanicolaou test coverage according to education level, age group, race/skin color, regions, and Brazilian capitals. The Prais-Winsten regression model was used to analyze the time series, and Student's t-test was employed to compare the prevalence rates between 2019 and 2023. RESULTS: Between 2007 and 2023, mammography coverage showed a stationary trend (71.1% in 2007 and 73.1% in 2023; p-value = 0.75) with a declining trend observed among women with 12 years or more of education (APC= -0.52% 95%CI -1.01%; -0.02%). Papanicolaou test coverage for all women aged between 25 and 64 exhibited a downward trend from 82% in 2007 to 76.8% in 2023 (APC= -0.45% 95%CI -0.76%; -0.13%). This decline was also noticed among those with 9 years or more of education; in the 25 to 44 age group; among women with white and mixed race; and in the Northeast, Central-West, Southeast, and South regions. When comparing coverage before and during Covid-19 pandemic, a reduction was noted for both tests. CONCLUSIONS: Over the years, there has been stability in mammography coverage and a decline in Papanicolaou test. The COVID-19 pandemic negatively impacted the number of these tests carried out among women, highlighting the importance of actions aimed at increasing coverage, especially among the most vulnerable groups.
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Neoplasias de la Mama , COVID-19 , Mamografía , Prueba de Papanicolaou , Neoplasias del Cuello Uterino , Humanos , Femenino , Prueba de Papanicolaou/estadística & datos numéricos , COVID-19/epidemiología , Brasil/epidemiología , Mamografía/estadística & datos numéricos , Mamografía/tendencias , Adulto , Persona de Mediana Edad , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/epidemiología , Detección Precoz del Cáncer/estadística & datos numéricos , Detección Precoz del Cáncer/tendencias , Detección Precoz del Cáncer/métodos , Anciano , Adulto Joven , Frotis Vaginal/estadística & datos numéricosRESUMEN
Despite the high prevalence of TP53 pathogenic variants (PV) carriers in the South and Southeast regions of Brazil, germline genetic testing for hereditary breast cancer (HBC) is not available in the Brazilian public health system, and the prevalence of Li-Fraumeni syndrome (LFS) is not well established in other regions of Brazil. We assessed the occurrence of TP53 p.R337H carriers among women treated for breast cancer (BC) between January 2021 and January 2022 at public hospitals of Brasilia, DF, Brazil. A total of 180 patients who met at least one of the NCCN criteria for HBC underwent germline testing; 44.4% performed out-of-pocket germline multigene panel testing, and 55.6% were tested for the p.R337H variant by allelic discrimination PCR. The median age at BC diagnosis was 43.5 years, 93% had invasive ductal carcinoma, 50% had estrogen receptor-positive/HER2 negative tumors, and 41% and 11% were diagnosed respectively at stage III and IV. Two patients (1.11%) harbored the p.R337H variant, and cascade family testing identified 20 additional carriers. The TP53 p.R337H detection rate was lower than that reported in other studies from south/southeast Brazil. Nonetheless, identifying TP53 PV carriers through genetic testing in the Brazilian public health system could guide cancer treatment and prevention.
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Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Proteína p53 Supresora de Tumor , Humanos , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiología , Brasil/epidemiología , Adulto , Proteína p53 Supresora de Tumor/genética , Persona de Mediana Edad , Pruebas Genéticas/métodos , Salud Pública , Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/epidemiología , AncianoRESUMEN
Objective: To analyze whether the COVID-19 pandemic had an impact on the screening, diagnosis and treatment of breast cancer in women up to 50 years of age in the state of Pará. Methods: Retrospective, cross-sectional study with a quantitative approach, using data from the Information Technology Department of the Brazilian Unified Health System. (DATASUS). The number of exams carried out in the pre-pandemic (2018-2019) and pandemic (2020-2021) period was analyzed based on the percentage variation, application of the chi-square test and G test for the time of exams and start time of treatment. Results: During the pandemic period, there was a greater number of screening mammograms (+3.68%), cytological (+23.68%), histological (+10.7%) and a lower number of diagnostic mammograms (-38.7%). The time interval for carrying out the exams was up to 30 days for screening and diagnostic exams and more than 60 days to start treatment during the pandemic period. Conclusion: Although the results indicate an increase in the number of screening and diagnostic procedures for breast cancer during the pandemic period, with the exception of diagnostic mammography, when considering probability values, the study points out that statistically the COVID-19 pandemic did not interfere with actions of breast cancer, in women over 50 years of age, in the state of Pará. Considering the autonomy of nursing and its role in public health, it is up to the professionals who are in charge of primary care programs to implement contingency plans in periods of crisis so that the population is not left unassisted.
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Neoplasias de la Mama , COVID-19 , Detección Precoz del Cáncer , Mamografía , Humanos , Femenino , COVID-19/epidemiología , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/diagnóstico , Estudios Transversales , Persona de Mediana Edad , Estudios Retrospectivos , Mamografía/estadística & datos numéricos , Adulto , Detección Precoz del Cáncer/estadística & datos numéricos , Tamizaje Masivo/métodos , Tamizaje Masivo/organización & administración , Tiempo de Tratamiento/estadística & datos numéricosRESUMEN
PURPOSE: To define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of breast and ovarian cancer (BC, OvC) in high-risk Brazilians in Minas Gerais with health insurance, southeast Brazil, undergoing multigene panel testing (MGPT). METHODS: Genotyping eligible individuals with health insurance in the Brazilian healthcare system for Hereditary Breast and Ovarian Cancer Syndrome to undergo molecular testing for 44 or 141-gene panels, a decision that was insurance driven. RESULTS: Overall, 701 individuals clinically defined as high BC/OvC risk, underwent MGPT from 1/2021 to 10/2022, with ~ 50% genotyped with a 44-gene panel and the rest with a 141-gene panel. Overall, 16.4% and 22.6% of genotyped individuals harbored PVs using 44-gene and the 141 gene panel, respectively. The most frequently mutated genes were: BRCA2 (3.7%); BRCA1 (3.6%) and monoallelic MUTYH (3.1%). CONCLUSION: The rate of PVs detected in high-risk individuals in this study was twice the 10% threshold used in Brazilian health guidelines. MGPT doubled the detection rate of PVs in cancer susceptibility genes in high-risk individuals compared with BRCA1/BRCA2 genotyping alone. The spectrum of PVs in Southern Brazil is diverse, with few recurring variants such as TP53 (0.6%), suggesting regional founder effects. The use of MGPT in hereditary cancer in Minas Gerais significantly increased the detection rate of P/LPVs compared to existing guidelines and should be considered as the primary genotyping modality in assessing hereditary cancer risk in Brazil.
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Predisposición Genética a la Enfermedad , Pruebas Genéticas , Mutación de Línea Germinal , Humanos , Femenino , Brasil/epidemiología , Persona de Mediana Edad , Adulto , Pruebas Genéticas/métodos , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Síndrome de Cáncer de Mama y Ovario Hereditario/epidemiología , Variaciones en el Número de Copia de ADN , Neoplasias Ováricas/genética , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/patología , Anciano , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/patología , Genotipo , Proteína BRCA1/genética , ADN GlicosilasasRESUMEN
BACKGROUND: Breast cancer remains a complex disease and leading cause of cancer-related death in Nigerian women. Recently, the role of nutrition has been highlighted in the etiology of breast cancer. METHODS: The aim of this research was to evaluate the nutrition-related knowledge, attitude, and practices of female university students. We also investigated the correlation between their demographic characteristics and their knowledge and attitudes of the survey participants. A descriptive cross-sectional study was carried out among female students at the Federal University of Oye (FUOYE), Nigeria. Participants completed self-administered questionnaires designed to assess their knowledge, attitude, and practices concerning cancer prevention. Statistical analysis was performed using SPSS 20, and significance was set at p < 0.05. RESULTS: Out of the 402 students who received the questionnaire, 300 completed it. The average age of the participants was 21.26 years with a standard deviation of 2.68. There was generally limited knowledge regarding breast cancer risk factors, with 45% of participants citing family history as the most recognized risk factor. Overall, knowledge level was influenced by the participants' permanent place of residence and course of study. Attitudes towards the impact of maternal and paternal nutrition on breast cancer prevention were notably low. Additionally, less than half of the participants demonstrated good dietary practices. CONCLUSION: This study revealed low levels of nutrition-related knowledge concerning cancer prevention, accompanied by poor dietary habits among the participants. These results suggest a possible link between inadequate knowledge about breast cancer prevention and the observed poor dietary practices among the participants. The frequent consumption of unhealthy foods among the participants may be a pointer to higher risk of breast cancer in the future, emphasizing a need for health education targeted at this group.
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Neoplasias de la Mama , Conocimientos, Actitudes y Práctica en Salud , Estudiantes , Humanos , Femenino , Neoplasias de la Mama/prevención & control , Neoplasias de la Mama/epidemiología , Nigeria/epidemiología , Estudiantes/psicología , Estudiantes/estadística & datos numéricos , Adulto Joven , Universidades , Adulto , Estudios Transversales , Encuestas y Cuestionarios , Estado Nutricional , Adolescente , Factores de RiesgoRESUMEN
Rural workers are disproportionally exposed to pesticides and might be at an increased risk of developing chronic diseases. Here, we investigated the impact of pesticide exposure on breast cancer (BC) risk and disease profile in rural female workers. This is a case-control study that prospectively included 758 individuals. The study was conducted in the Southwest region of Paraná state in Brazil, a region characterized by family-based agriculture and intensive use of pesticides. We found that this region has a 41% higher BC diagnosis rate and 14% higher BC mortality rate than the mean rates in Brazil, as well as a pesticide trade volume about 6 times higher than the national average. We showed substantial exposure in this population and found that even women who did not work in the fields but performed equipment decontamination and clothes washing of male partners who worked in the fields had urine samples positive for glyphosate, atrazine, and/or 2,4-D. The crude association showed a significantly higher risk of BC among women exposed to pesticides (OR: 1.58, 95% CI 1.18-2.13). Adjusted analyses showed a lower and nonstatistically significant association (OR: 1.30, 95% CI 41 0.87-1.95). Stratification on disease profile showed a significantly higher risk of lymph node metastasis (adjusted OR: 2.19, 95% CI 1.31-3.72) in women exposed to pesticides. Our findings suggest that female populations exposed to pesticides are at a higher risk of developing BC with a more aggressive profile and draw attention to the need to monitor rural populations potentially exposed to pesticides in the field or at home.
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Agricultura , Neoplasias de la Mama , Exposición Profesional , Plaguicidas , Humanos , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Femenino , Estudios de Casos y Controles , Persona de Mediana Edad , Adulto , Población RuralRESUMEN
BACKGROUND: In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. RESULTS: We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. CONCLUSION: This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.
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Proteína BRCA2 , Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Femenino , Mutación de Línea Germinal/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias de la Mama/epidemiología , Colombia/epidemiología , Persona de Mediana Edad , Adulto , Proteína BRCA2/genética , Proteína BRCA1/genética , Secuenciación del Exoma , Anciano , Pruebas Genéticas/métodos , Proteínas de la Ataxia Telangiectasia Mutada/genéticaRESUMEN
Breast cancer health disparities are linked to clinical-pathological determinants, socioeconomic inequities, and biological factors such as genetic ancestry. These factors collectively interact in complex ways, influencing disease behavior, especially among highly admixed populations like Colombians. In this study, we assessed contributing factors to breast cancer health disparities according to genetic ancestry in Colombian patients from a national cancer reference center. We collected non-tumoral paraffin embedded (FFPE) blocks from 361 women diagnosed with breast cancer at the National Cancer Institute (NCI) to estimate genetic ancestry using a 106-ancestry informative marker (AIM) panel. Differences in European, Indigenous American (IA) and African ancestry fractions were analyzed according to potential sources of breast cancer health disparities, like etiology, tumor-biology, treatment administration, and socioeconomic-related factors using a Kruskal-Wallis test. Our analysis revealed a significantly higher IA ancestry among overweight patients with larger tumors and those covered by a subsidized health insurance. Conversely, we found a significantly higher European ancestry among patients with smaller tumors, residing in middle-income households, and affiliated to the contributory health regime, whereas a higher median of African ancestry was observed among patients with either a clinical, pathological, or stable response to neoadjuvant treatment. Altogether, our results suggest that the genetic legacy among Colombian patients, measured as genetic ancestry fractions, may be reflected in many of the clinical-pathological variables and socioeconomic factors that end up contributing to health disparities for this disease.
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Neoplasias de la Mama , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/patología , Neoplasias de la Mama/etnología , Colombia/epidemiología , Disparidades en el Estado de Salud , Factores Socioeconómicos , Población Blanca/genética , Población Negra , Indígenas SudamericanosRESUMEN
OBJECTIVE: To obtain breast cancer survival estimates in Manizales, Colombia, considering socioeconomic level, health insurance regime and residential area, while adjusting for age, histology and stage at diagnosis. METHODS: Analytical cohort study based on breast cancer incident cases recorded by the Population-based Manizales Cancer Registry between 2008-2015. Patients were followed-up for 60 months. Cause-specific survival was calculated using the Kaplan-Meier method for variables of interest, with the Wilcoxon-Breslow-Gehan test for differences. Cox multivariate regression models were fitted. RESULTS: 856 breast cancer cases were included. The 5-year cause-specific survival for the entire cohort was 78.2%. It was higher in women with special/exception health insurance, high socioeconomic level, <50 years old, ductal carcinoma, and stages I and II. Residential area did not impact survival. In Cox models, the subsidized health insurance regime (HR: 4.87 vs contributory) and low socioeconomic level (HR: 2.45 vs high) were predictors of the hazard of death in women with breast cancer, adjusted for age, histology, stage and interactions age-stage and insurance-stage. A positive interaction (synergistic effect modification) between health insurance regime and stage regarding to survival was observed. CONCLUSION: Socioeconomic factors significantly contribute to the inequities in breast cancer survival, independent of the stage at diagnosis. This suggests the need for comprehensive interventions to remove barriers to accessing the health system. This research provides evidence of survival gaps mediated by certain social determinants of health and generates data on the overall performance of the Colombian health system.
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Neoplasias de la Mama , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/terapia , Neoplasias de la Mama/diagnóstico , Colombia/epidemiología , Estudios de Cohortes , Mama , Inequidades en SaludRESUMEN
BACKGROUND: A recent large, well-annotated international cohort of patients with Li-Fraumeni syndrome and early-stage breast cancer was examined for shared features. METHODS: This multicenter cohort study included women with a germline TP53 pathogenic or likely pathogenic variant and nonmetastatic breast cancer diagnosed between 2002 and 2022. Clinical and genetic data were obtained from institutional registries and clinical charts. Descriptive statistics were used to summarize proportions, and differences were assessed using χ2 or Wilcoxon rank sum tests. Metachronous contralateral breast cancer risk, radiation-induced sarcoma risk, and recurrence-free survival were analyzed using the Kaplan-Meier methodology. RESULTS: Among 227 women who met study criteria, the median age of first breast cancer diagnosis was 37 years (range = 21-71), 11.9% presented with bilateral synchronous breast cancer, and 18.1% had ductal carcinoma in situ only. In total, 166 (73.1%) patients underwent mastectomies, including 67 bilateral mastectomies as first breast cancer surgery. Among those patients with retained breast tissue, the contralateral breast cancer rate was 25.3% at 5 years. Among 186 invasive tumors, 72.1% were stages I to II, 48.9% were node negative, and the most common subtypes were hormone receptor-positive/HER2-negative (40.9%) and hormone receptor positive/HER2 positive (34.4%). At a median follow-up of 69.9 months (interquartile range = 32.6-125.9), invasive hormone receptor-positive/HER2-negative disease had the highest recurrence risk among the subtypes (5-year recurrence-free survival = 61.1%, P = .001). Among those who received radiation therapy (n = 79), the 5-year radiation-induced sarcoma rate was 4.8%. CONCLUSION: We observed high rates of ductal carcinoma in situ, hormone receptor-positive, and HER2-positive breast cancers, with a worse outcome in the hormone receptor-positive/HER2-negative luminal tumors, despite appropriate treatment. Confirmation of these findings in further studies could have implications for breast cancer care in those with Li-Fraumeni syndrome.
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Neoplasias de la Mama , Proteína p53 Supresora de Tumor , Humanos , Femenino , Neoplasias de la Mama/patología , Neoplasias de la Mama/terapia , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/mortalidad , Persona de Mediana Edad , Adulto , Anciano , Proteína p53 Supresora de Tumor/genética , Adulto Joven , Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/epidemiología , Síndrome de Li-Fraumeni/complicaciones , Mutación de Línea Germinal , Estudios de Cohortes , Mastectomía , Estadificación de NeoplasiasRESUMEN
Whether trace metals modify breast density, the strongest predictor for breast cancer, during critical developmental stages such as puberty remains understudied. Our study prospectively evaluated the association between trace metals at Tanner breast stage B1 (n = 291) and at stages both B1 and B4 (n = 253) and breast density at 2 years post-menarche among Chilean girls from the Growth and Obesity Cohort Study. Dual-energy x-ray absorptiometry assessed the volume of dense breast tissue (absolute fibroglandular volume [FGV]) and percent breast density (%FGV). Urine trace metals included arsenic, barium, cadmium, cobalt, cesium, copper, magnesium, manganese, molybdenum, nickel, lead, antimony, selenium, tin, thallium, vanadium, and zinc. At B1, a doubling of thallium concentration resulted in 13.69 cm3 increase in absolute FGV (ß: 13.69, 95% confidence interval [CI]: 2.81, 24.52), while a doubling of lead concentration resulted in a 7.76 cm3 decrease in absolute FGV (ß: -7.76, 95%CI: -14.71, -0.73). At B4, a doubling of barium concentration was associated with a 10.06 cm3 increase (ß: 10.06, 95% CI: 1.44, 18.60), copper concentration with a 12.29 cm3 increase (ß: 12.29, 95% CI: 2.78, 21.56), lead concentration with a 9.86 cm3 increase (ß: 9.86, 95% CI: 0.73, 18.98), antimony concentration with a 12.97 cm3 increase (ß: 12.97, 95% CI: 1.98, 23.79) and vanadium concentration with a 13.14 cm3 increase in absolute FGV (ß: 13.14, 95% CI: 2.73, 23.58). Trace metals may affect pubertal breast density at varying developmental stages with implications for increased susceptibility for breast cancer.
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Absorciometría de Fotón , Densidad de la Mama , Oligoelementos , Humanos , Femenino , Chile/epidemiología , Adolescente , Densidad de la Mama/efectos de los fármacos , Oligoelementos/análisis , Oligoelementos/orina , Estudios Prospectivos , Niño , Mama/efectos de los fármacos , Mama/crecimiento & desarrollo , Neoplasias de la Mama/epidemiologíaRESUMEN
BACKGROUND: Sentinel lymph node biopsy in breast cancer is considered the standard of staging in cases of clinically negative lymph nodes. Its omission in favor of axillary dissection generates significant morbidity. OBJECTIVE: To determine the total number of sentinel node biopsy procedures in breast cancer in Colombia from 2017 through 2020, model and analyze them as if they were performed only in stage I breast cancer patients, and integrate their results into the concepts of quality of medical care. METHODS: Search in a database of the Ministry of Health and Social Protection of Colombia with sentinel lymph node biopsy codes, and filters of breast cancer and year. Their results are contrasted with the number of cases in stage I of breast cancer. RESULTS: Breast cancer TNM staging was reported in 22154 cases, 3648 stage I. In the same time frame, the number of sentinel lymph node biopsies for breast cancer in Colombia was 1045, 28.64% of the total cases reported in stage I. CONCLUSIONS: Colombia is far from complying with the standard indicator of sentinel lymph node biopsy. It is recommended to concentrate breast cancer cases in hospitals that provide the conditions for its performance.
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Neoplasias de la Mama , Ganglio Linfático Centinela , Humanos , Femenino , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/terapia , Colombia/epidemiología , Biopsia del Ganglio Linfático Centinela , MamaRESUMEN
Latin American populations, characterized by intricate admixture patterns resulting from the intermingling of ancestries from European, Native American (NA) Asian, and African ancestries which result in a vast and complex genetic landscape, harboring unique combinations of novel variants. This genetic diversity not only poses challenges in traditional population genetics methods but also opens avenues for a deeper understanding of its implications in health. In cancer, the interplay between genetic ancestry, lifestyle factors, and healthcare disparities adds a layer of complexity to the varying incidence and mortality rates observed across different Latin American subpopulations. This complex interdependence has been unveiled through numerous studies, whether conducted on Latin American patients residing on the continent or abroad, revealing discernible differences in germline composition that influence divergent disease phenotypes such as higher incidence of Luminal B and Her2 breast tumors, EGFR and KRAS mutated lung adenocarcinomas in addition to an enrichment in BRCA1/2 pathogenic variants and a higher than expected prevalence of variants in colorectal cancer associated genes such as APC and MLH1. In prostate cancer novel risk variants have also been solely identified in Latin American populations. Due to the complexity of genetic divergence, inputs from each individual ancestry seem to carry independent contributions that interplay in the development of these complex disease phenotypes. By understanding these unique population characteristics, genomic ancestries hold a promising avenue for tailoring prognostic assessments and optimizing responses to oncological interventions.
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Neoplasias , Humanos , América Latina/epidemiología , Neoplasias/genética , Neoplasias/epidemiología , Masculino , Femenino , Genómica , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiologíaRESUMEN
PURPOSE: To investigate breast cancer (BC) incidence and mortality rates among specific racial groups in Brazil. METHODS: BC incidence was evaluated from 2010 to 2015, using Brazilian Population-Based Cancer Registries, incorporating crude ratios and annual average percentage change (AAPC). Clinical and sociodemographic data from 2000 to 2019 were obtained from Hospital-Based Cancer Registries. Mortality data from 2000 to 2020 were sourced from the National Mortality Information System, comparing White women and Black women. RESULTS: Across 13 Brazilian registries, 70,896 new BC cases were reported from 2010 to 2015. The median BC incidence rate was notably higher for White women (101.3 per 100,000) compared to Black women (59.7 per 100,000). In the general population, non-significant decrease in annual BC incidence was observed (AAPC = - 1.2; p = 0.474). Black women were more likely to live in underdeveloped areas, have lower education levels, live without a partner, and have higher alcohol consumption as compared to White women. A higher proportion of Black women received advanced-stage diagnoses (60.1% versus 50.6%, p < 0.001). BC-related mortality analysis showed 271,002 recorded deaths, with significant increase in BC-specific mortality rates in both racial groups. Black women displayed an AAPC of 2.3% (p < 0.001), while White women demonstrated a moderately elevated AAPC of 0.6% (p < 0.001). CONCLUSION: This study underscores the need for targeted policies to address disparities in access to early detection and proper treatment, particularly for Black women in underprivileged regions, aiming to improve the survival rates of Brazilian women grappling with BC.
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Neoplasias de la Mama , Sistema de Registros , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Adulto Joven , Brasil/epidemiología , Neoplasias de la Mama/mortalidad , Neoplasias de la Mama/etnología , Neoplasias de la Mama/epidemiología , Etnicidad/estadística & datos numéricos , Disparidades en el Estado de Salud , Disparidades en Atención de Salud/estadística & datos numéricos , Disparidades en Atención de Salud/etnología , Incidencia , Factores Socioeconómicos , Población Blanca/estadística & datos numéricos , Población NegraRESUMEN
BACKGROUND: Association between breast cancer (BC) and thyroid nodules (TNs) is still unclear. This research was to estimate the prevalence and risk factors of TN in Chinese BC women at initial diagnosis. METHODS: 1731 Chinese early-stage BC women at initial diagnosis underwent thyroid ultrasound and 1:1 age-matched Chinese healthy women underwent health examination in corresponding period were enrolled for analysis. RESULTS: Prevalence of TN and TI-RADS ≥ 4 TN in BC patients (56.27% and 9.76%) were higher than healthy people (46.04% and 5.49%), respectively, P < 0.001. Among BC patients, prevalence of TN and TI-RADS ≥ 4 TN in hormone receptor (HR)-positive patients (59.57% and 11.81%) were higher than HR-negative patients (48.77% and 5.10%), respectively, P < 0.001, while without difference between HR-negative patients and healthy people. After adjusting for age and BMI, HR-positive patients had higher risk of TN (OR = 1.546, 95%CI 1.251-1.910, P < 0.001) and TI-RADS ≥ 4 TN (OR = 3.024, 95%CI 1.943-4.708, P < 0.001) than HR-negative patients. Furthermore, the risk of TI-RADS ≥ 4 TN was higher in patients with estrogen receptor (ER) positive (OR = 2.933, 95%CI 1.902-4.524), progesterone receptor (PR) positive (OR = 1.973, 95%CI 1.378-2.826), Ki-67 < 20% (OR = 1.797, 95%CI 1.280-2.522), and tumor size < 2 cm (OR = 1.804, 95%CI 1.276-2.552), respectively, P < 0.001. CONCLUSIONS: Prevalence of TN, especially TI-RADS ≥ 4 TN, in Chinese early-stage BC women was higher than healthy people. HR-positive patients had higher prevalence and risk of TN, while without difference between HR-negative patients and healthy people. The increased risk of TN was correlated with ER-positive, PR-positive, lower Ki-67 expression, and smaller tumor size.
Asunto(s)
Neoplasias de la Mama , Nódulo Tiroideo , Humanos , Femenino , Nódulo Tiroideo/patología , Nódulo Tiroideo/epidemiología , Neoplasias de la Mama/patología , Neoplasias de la Mama/epidemiología , Persona de Mediana Edad , Estudios Transversales , Factores de Riesgo , Prevalencia , Adulto , Receptores de Estrógenos/metabolismo , China/epidemiología , Anciano , Estudios de Casos y Controles , Receptores de Progesterona/metabolismo , UltrasonografíaRESUMEN
BACKGROUND: A detailed understanding of the genetic basis of cancer is of great interest to public health monitoring programs. Although many studies have been conducted in Brazil, a global view on the molecular profile related to hereditary breast and ovarian cancer (HBOC) in this large and heterogeneous population is lacking. METHODS: A systematic review following the PRISMA guidelines was conducted in three electronic databases (PubMed, BIREME and SciELO). Brazilian studies covering molecular analysis of genes related to HBOC, published until December 2023, were considered. RESULTS: We identified 35 original studies that met all the inclusion criteria. A total of 137 distinct mutations were found in the BRCA1 gene, but four of them corresponded to 44.5% of all mutations found in this gene. The c.5266dupC BRCA1 mutation was responsible for 26.8% of all pathogenic mutations found in the BRCA1 gene in patients with clinical criteria for HBOC from the Brazilian population. Considering all studies that track this mutation in the BRCA1 gene, we found a frequency of 2% (120/6008) for this mutation in Brazilian patients. In the BRCA2 gene, the four most frequent mutations corresponded to 29.2% of pathogenic mutations. Even though it was tracked by few studies, the c.156_157insAlu mutation was responsible for 9.6% of all pathogenic mutations reported in the BRCA2 gene. Seventeen studies found pathogenic mutations in other non-BRCA genes, the c.1010G > A mutation in the TP53 gene being the most frequent one. Considering all studies that screened for this specific mutation in patients with the clinical criteria for HBOC, the frequency of c.1010G > A was estimated at 1.83% (61/3336). CONCLUSIONS: Despite significant molecular heterogeneity among mutations in HBOC patients from Brazil, three mutations deserve to be highlighted, c.5266dupC, c.156_157insAlu and c.1010G > A in the BRCA1, BRCA2 and TP53 genes, respectively. With more than 200 records, these three mutations play a vital role in the pathology of breast and ovarian cancer in Brazil. The data collected shed light on the subject, but there is still not enough data from certain subpopulations.
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Neoplasias de la Mama , Síndrome de Cáncer de Mama y Ovario Hereditario , Neoplasias Ováricas , Femenino , Humanos , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Síndrome de Cáncer de Mama y Ovario Hereditario/epidemiología , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Mutación/genética , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Neoplasias Ováricas/patologíaRESUMEN
OBJECTIVE: The aim of the study was to analyze the association between the superoxide dismutase 2 (SOD2) gene variants rs2758346, rs5746094, and rs2758331 and breast cancer (BC) in the Mexican population as well as to perform in silico assessments of the variants' potential impact. PATIENTS AND METHODS: We performed in silico analysis and analyzed 489 healthy women and 467 BC patients using TaqMan assays and Real-Time PCR. RESULTS: The TT genotype, the T allele of the rs2758346 variant, and the CC genotype of both rs5746094 and rs2758331 were identified as BC risk factors (p < 0.05). The TT and CTTT genotype of the rs2758346 variant stratified by the presence of ki-67 (> 20%), TCCC, and estrogen receptor (ER)-positive of the rs5746094 variant, and the CC and CT genotypes of rs2758331 stratified by menopause status and non-chemotherapy response were risk factors. The TTC and TTA haplotypes are risk factors for BC. In silico analysis revealed that the rs2758346, rs5746094, and rs2758331 variants could influence SOD2 gene regulation by transcription factors and circulating RNAs (circRNAs). CONCLUSIONS: The rs2758346, rs5746094, and rs2758331 variants of the SOD2 gene were associated with BC risk and could influence SOD2 regulation by transcription factors and circRNAs.