The somatic mutation profile of estrogen receptor-positive HER2-negative metastatic breast cancer in Brazilian patients.

Background: Breast cancer is the leading cause of cancer death among women worldwide. Studies about the genomic landscape of metastatic breast cancer (MBC) have predominantly originated from developed nations. There are still limited data on the molecular epidemiology of MBC in low- and middle-income countries. This study aims to evaluate the prevalence of mutations in the PI3K-AKT pathway and other actionable drivers in estrogen receptor (ER)+/HER2- MBC among Brazilian patients treated at a large institution representative of the nation's demographic diversity. Methods: We conducted a retrospective observational study using laboratory data (OC Precision Medicine). Our study included tumor samples from patients with ER+/HER2- MBC who underwent routine tumor testing from 2020 to 2023 and originated from several Brazilian centers within the Oncoclinicas network. Two distinct next-generation sequencing (NGS) assays were used: GS Focus (23 genes, covering PIK3CA, AKT1, ESR1, ERBB2, BRCA1, BRCA2, PALB2, TP53, but not PTEN) or GS 180 (180 genes, including PTEN, tumor mutation burden [TMB] and microsatellite instability [MSI]). Results: Evaluation of tumor samples from 328 patients was undertaken, mostly (75.6%) with GS Focus. Of these, 69% were primary tumors, while 31% were metastatic lesions. The prevalence of mutations in the PI3K-AKT pathway was 39.3% (95% confidence interval, 33% to 43%), distributed as 37.5% in PIK3CA and 1.8% in AKT1. Stratification by age revealed a higher incidence of mutations in this pathway among patients over 50 (44.5% vs 29.1%, p=0.01). Among the PIK3CA mutations, 78% were canonical (included in the alpelisib companion diagnostic non-NGS test), while the remaining 22% were characterized as non-canonical mutations (identifiable only by NGS test). ESR1 mutations were detected in 6.1%, exhibiting a higher frequency in metastatic samples (15.1% vs 1.3%, p=0.003). Additionally, mutations in BRCA1, BRCA2, or PALB2 were identified in 3.9% of cases, while mutations in ERBB2 were found in 2.1%. No PTEN mutations were detected, nor were TMB high or MSI cases. Conclusion: We describe the genomic landscape of Brazilian patients with ER+/HER2- MBC, in which the somatic mutation profile is comparable to what is described in the literature globally. These data are important for developing precision medicine strategies in this scenario, as well as for health systems management and research initiatives.

Electric hand warmer versus observation to avoid discomfort during scalp cooling for chemotherapy-induced alopecia prevention: a randomized study.

Chemotherapy-induced alopecia (CIA) is a challenge in the management of cancer patients. Scalp cooling (SC) leads to reduction in CIA, however it is associated with significant adverse events, leading to 3-13% discontinuation rates. This pilot study evaluated the role of Electric Hand Warmers (EHW) on thermal (TC), sensorial (SCo) and general comfort (GC) in patients with breast cancer (BC) undergoing chemotherapy and SC to reduce CIA. Patients were randomly assigned to EHW use or observation. TC, SCo and GC were evaluated after each chemotherapy infusion. Favorable outcomes in both TC and SCo defined a positive result on GC. We analysed the impact of age, alopecia, chemotherapy regimen and EHW use in the different comfort scales using a Logistic Regression (LR) model. Forty women with early breast cancer were randomly assigned to EHW (n = 20) or observation (n = 20) during neo(adjuvant) chemotherapy. Median age was 53 years. In the EHW arm, favorable thermal response was reported by 79% versus 50% in the control arm (odds ratio [OR] 3.79, p < 0.001). SCo was satisfactory in 82% in the EHW arm versus 74% in the control arm (OR 1.62, p = 0.1). Overall, 73% in the EHW arm had favorable GC versus 44% in the control arm (OR 3.4, p < 0.001). Age, alopecia, and chemotherapy regimen did not impact on comfort measures. Conclusion: Our study suggests that the use of an EHW has a consistent favorable impact on TC and GC of BC patients under SC technology to prevent CIA.

Breast and gynecologic cancers as a Brazilian health priority.

OBJECTIVE: Cancer imposes a profound burden on low- and middle-income countries where 65% of the global cancer deaths occurred in 2020. The objective of the present review was to describe female cancer epidemiology in Brazil, barriers to prevention, screening, and treatment, and to propose strategies to a better control. METHODS: For the process of literature search and scientific acquisition, we have utilized the terms "female cancer" AND "breast cancer," AND "cervical cancer" AND "endometrial cancer" AND "ovarian cancer" AND "Brazil" in PubMed. References of the articles included in this review were manually searched in order to identify relevant studies on the topic. The official Brazilian epidemiology data were extensively analyzed at the governmental site www.inca.gov.br. RESULTS: Considering cases of breast and gynecologic cancers together, 105,770 new cases are expected to be diagnosed yearly, positioning female cancer as the highest cancer incidence in Brazil. Female breast cancer is the most common and the leading cause of death from cancer in the female population in all regions of Brazil, except in the North, where cervical cancer ranks first. Cervical cancer, a preventable disease, corresponds to the third-most common neoplasia in women, with higher incidences in the North and Northeast regions of Brazil. An upward trend has been observed in endometrial cancer incidence, a tendency that follows the increase of its two most common risk factors: population aging and obesity. Ovarian cancer currently occupies the eighth position among female cancers in Brazil, but it is the most lethal gynecologic cancer. The main strategies to reduce female cancer mortality rates are the reduction of inequalities in healthcare services and the early diagnosis of cases. The lack of a specific national cancer program results in a reactive and unplanned approach to healthcare provision, ultimately leading to suboptimal resource utilization and higher expenditure. CONCLUSION: Analyzed together, breast and gynecologic cancers correspond to the leading cause of cancer in Brazil. A heterogeneous group, female cancer includes diseases with a high primary and secondary prevention potential. The organization of a female cancer program in Brazil prioritizing primary and secondary prevention strategies, such as adequate mammography screening and human papillomavirus vaccination coverage, could significantly improve female cancer control in the country.

Breast and gynecologic cancers as a Brazilian health priority

SUMMARY OBJECTIVE: Cancer imposes a profound burden on low- and middle-income countries where 65% of the global cancer deaths occurred in 2020. The objective of the present review was to describe female cancer epidemiology in Brazil, barriers to prevention, screening, and treatment, and to propose strategies to a better control. METHODS: For the process of literature search and scientific acquisition, we have utilized the terms "female cancer" AND "breast cancer," AND "cervical cancer" AND "endometrial cancer" AND "ovarian cancer" AND "Brazil" in PubMed. References of the articles included in this review were manually searched in order to identify relevant studies on the topic. The official Brazilian epidemiology data were extensively analyzed at the governmental site www.inca.gov.br. RESULTS: Considering cases of breast and gynecologic cancers together, 105,770 new cases are expected to be diagnosed yearly, positioning female cancer as the highest cancer incidence in Brazil. Female breast cancer is the most common and the leading cause of death from cancer in the female population in all regions of Brazil, except in the North, where cervical cancer ranks first. Cervical cancer, a preventable disease, corresponds to the third-most common neoplasia in women, with higher incidences in the North and Northeast regions of Brazil. An upward trend has been observed in endometrial cancer incidence, a tendency that follows the increase of its two most common risk factors: population aging and obesity. Ovarian cancer currently occupies the eighth position among female cancers in Brazil, but it is the most lethal gynecologic cancer. The main strategies to reduce female cancer mortality rates are the reduction of inequalities in healthcare services and the early diagnosis of cases. The lack of a specific national cancer program results in a reactive and unplanned approach to healthcare provision, ultimately leading to suboptimal resource utilization and higher expenditure. CONCLUSION: Analyzed together, breast and gynecologic cancers correspond to the leading cause of cancer in Brazil. A heterogeneous group, female cancer includes diseases with a high primary and secondary prevention potential. The organization of a female cancer program in Brazil prioritizing primary and secondary prevention strategies, such as adequate mammography screening and human papillomavirus vaccination coverage, could significantly improve female cancer control in the country.

Dealing with cancer screening in the COVID-19 era.

OBJECTIVE: This article aims to alert health professionals for cancer screening in the face of the possibility of new waves of disease. METHODS: A narrative review was conducted through a search in MEDLINE, Lilacs, Chinese Biomedical Literature Database, and international medical societies publications. RESULTS: Breast cancer: in high-risk patients (confirmed familial cancer syndrome or with high-risk tools scores), clinicians should act according to usual recommendations; in average-risk individuals, consider screening with mammography with a longer time span (maximum of two years). Cervical cancer: women turning 25 years old who have already been immunized and with no previous Pap test can have the test postponed during the pandemic; if there is no previous dose of Human Papillomavirus vaccination, initiation of screening should be recommended following a more rigid approach for COVID prevention; in women over 30 years of age who have never participated in cervical screening, the first screening exam is also essential. Colorectal cancer: if the individual is at elevated risk for familial cancer, the screening with colonoscopy according to usual recommendations should be supported; if at average risk consider screening with Fecal Occult Blood Test. Prostate cancer: there is a trend to postpone routine prostate cancer screening until the pandemic subsides. CONCLUSIONS: The decision to keep cancer screening must be discussed and individualized, considering the possibility of new waves of COVID-19.

Dealing with cancer screening in the COVID-19 era

SUMMARY OBJECTIVE: This article aims to alert health professionals for cancer screening in the face of the possibility of new waves of disease. METHODS: A narrative review was conducted through a search in MEDLINE, Lilacs, Chinese Biomedical Literature Database, and international medical societies publications. RESULTS: Breast cancer: in high-risk patients (confirmed familial cancer syndrome or with high-risk tools scores), clinicians should act according to usual recommendations; in average-risk individuals, consider screening with mammography with a longer time span (maximum of two years). Cervical cancer: women turning 25 years old who have already been immunized and with no previous Pap test can have the test postponed during the pandemic; if there is no previous dose of Human Papillomavirus vaccination, initiation of screening should be recommended following a more rigid approach for COVID prevention; in women over 30 years of age who have never participated in cervical screening, the first screening exam is also essential. Colorectal cancer: if the individual is at elevated risk for familial cancer, the screening with colonoscopy according to usual recommendations should be supported; if at average risk consider screening with Fecal Occult Blood Test. Prostate cancer: there is a trend to postpone routine prostate cancer screening until the pandemic subsides. CONCLUSIONS: The decision to keep cancer screening must be discussed and individualized, considering the possibility of new waves of COVID-19.

ASSOCIATION BETWEEN ALCOHOL CONSUMPTION AND BREAST CANCER DEVELOPMENT: A CASE-CONTROL STUDY / Associação entre ingesta alcoólica e desenvolvimento de câncer de mama: um estudo de caso-controle

Objectives: To identify the association of alcohol consumption with the development of breast cancer in a patient population of Salvador, Bahia. Methods: Case-control study, conducted between December 2013 and May 2015, with 69 patients with breast ductal carcinoma and 71 controls. Sample calculation was made with 140 patients, with 5% presumed difference between groups and 10% acceptable difference. The χ2 test was used to evaluate the correlation between categorical variables, and Student's t-test was applied to compare continuous variables. Results: From all cases, medium alcohol intake was 3.66±8.60 g/day; among controls, the average was 3.71±7.40 g/day (p=0.890). When analyzing the association between alcohol intake and breast cancer, odds ratio was 0.99 (95% confidence interval 0.524­1.890), p=0.988. For alcohol consumption greater than 10 g/day and breast cancer, odds ratio was 1.579 (95%CI 0.624­3.995), p=0.332. Conclusions: Although published data suggest an association between alcohol consumption and breast cancer, in this study there was no statistical significance between the variables assessed and the onset of this pathology.

Objetivo: Identificar a associação do consumo alcoólico com o desenvolvimento de câncer de mama em uma população de pacientes de Salvador, Bahia. Métodos: Estudo de caso-controle realizado entre dezembro de 2013 e maio de 2015 com 69 pacientes com diagnóstico de carcinoma ductal da mama e 71 controles. Foi realizado cálculo amostral com 140 pacientes, esperando-se uma diferença presumida de 5% entre os grupos e com diferença aceitável de 10%. Realizou-se teste do χ2 para avaliação de correlação entre as variáveis categóricas e teste t de Student entre as variáveis contínuas. Resultados: Entre os casos, a ingesta alcoólica média foi de 3,66±8,60 g/dia; já entre os controles a média foi de 3,71±7,40 g/dia (p=0,890). Ao analisar-se a associação entre ingesta alcoólica e câncer de mama, obtivemos odds ratio de 0,99 (intervalo de confiança de 95% ­ IC95% 0,524­1,890), p=0,988. Em relação ao consumo de álcool maior do que 10 g/dia e câncer de mama, a odds ratio foi de 1,579 (IC95% 0,624­3,995), p=0,332. Conclusão: Apesar de dados publicados e hipóteses sugerirem associação entre ingesta alcoólica e câncer de mama, neste estudo não houve significância estatística entre as variáveis analisadas e a presença da patologia.