Christine Elisabete Rubio Alem, Bárbara Narciso Duarte, A Cabello, Sandra Regina Campos Teixeira, T. Gáspár, Márcio Lopes de Souza, César Cabello
{"title":"Impact of germline panel size on hereditary cancer: findings of variants of uncertain significance in the Brazilian public health population selected for high hereditary cancer risk","authors":"Christine Elisabete Rubio Alem, Bárbara Narciso Duarte, A Cabello, Sandra Regina Campos Teixeira, T. Gáspár, Márcio Lopes de Souza, César Cabello","doi":"10.3389/fcacs.2025.1549584","DOIUrl":"https://doi.org/10.3389/fcacs.2025.1549584","url":null,"abstract":"Introduction Breast cancer is the most common malignant neoplasm among women in Brazil, excluding non-melanoma skin cancers, with a significant proportion of hereditary cases associated with pathogenic or likely pathogenic germline variants (PV/LPV) in various genes. The increased use of multigene panels to identify these PV/LPV has been recommended but highlights the challenge of detecting variants of uncertain significance (VUS), which complicate genetic counseling and clinical management. Objective To evaluate epidemiological and reproductive aspects, as well as the size of different germline multigene panels that may influence the proportion of VUS detections. Materials and methods A cross-sectional study was conducted with rigorous inclusion criteria, encompassing women with personal or family history relevant to hereditary breast cancer from November 2021 to October 2022 at the High-Risk Outpatient Clinic, of the Women's Hospital Prof. José Aristodemo Pinotti—CAISM, University of Campinas (UNICAMP). Selection was based on the NCCN 2022 criteria. Samples were analyzed using next-generation sequencing (NGS), focusing on 144 genes associated with hereditary syndromes. The following statistical tests were applied: Chi-Square, Fisher's Exact, Kruskal–Wallis, Bowker, McNemar, and Stepwise logistic regression. Significance level was set at p < 0.05. Results Among the 364 patients analyzed, 51 (14%) presented benign or likely benign results, while 313 (86%) showed alterations, including VUS and PV/LPV. The prevalence of VUS was high, particularly in the ATM gene. Univariate and multivariate logistic regression analyses detected no associations between the presence of VUS and reproductive or epidemiological variables. The 144-gene panel identified a higher number of VUS compared to the 20- or 23-gene panels: 56.3 vs. 23.9, and 31%, respectively ( p < 0.001; p < 0.001). Conclusion The findings underscore the importance of panel size in the identification of PV/LPV vs. VUS. Most patients presented VUS, with the ATM gene being the most affected. None of the reproductive or epidemiological variables studied were associated with the presence of VUS across all groups. While the extended 144-gene panel significantly increased the detection of VUS compared to smaller panels (20–23 genes), it did not substantially improve the identification rate of PV/LPV, highlighting the need to improve genetic panels, especially for genetically diverse populations like the Brazilian population.","PeriodicalId":518971,"journal":{"name":"Frontiers in Cancer Control and Society","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.frontiersin.org/journals/cancer-control-and-society/articles/10.3389/fcacs.2025.1549584/pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147902001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jacob Gerken, Gear Thomas Vincent, D. Zapata, Ileana G. Barron, Isain Zapata
{"title":"Comprehensive assessment of pesticide use patterns and increased cancer risk","authors":"Jacob Gerken, Gear Thomas Vincent, D. Zapata, Ileana G. Barron, Isain Zapata","doi":"10.3389/fcacs.2024.1368086","DOIUrl":"https://doi.org/10.3389/fcacs.2024.1368086","url":null,"abstract":"Pesticides are an essential feature of modern-day agriculture that adds to the list of factors that increase cancer risk. Our study aims to comprehensively evaluate this relationship through a population-based approach that considers confounding variables such as county-specific rates of smoking, socioeconomic vulnerability, and agricultural land. We achieved our goal with the implementation of latent-class pesticide use patterns, which were further modeled among covariates to evaluate their associations with cancer risk. Our findings demonstrated an association between pesticide use and increased incidence of leukemia; non-Hodgkin's lymphoma; bladder, colon, lung, and pancreatic cancer; and all cancers combined that are comparable to smoking for some cancer types. Through our comprehensive analysis and unique approach, our study emphasizes the importance of a holistic assessment of the risks of pesticide use for communities, which may be used to impact future policies regarding pesticides.","PeriodicalId":518971,"journal":{"name":"Frontiers in Cancer Control and Society","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141803035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Stefan S Heinze, C. J. Chiekwe, Thomas Christensen, S. Culos-Reed, Stephanie J Kendall, Jodi E. Langley, M. McNeely, M. Keats, S. Grandy
{"title":"Activating cancer communities through an exercise strategy for survivors: an effectiveness-implementation trial","authors":"Stefan S Heinze, C. J. Chiekwe, Thomas Christensen, S. Culos-Reed, Stephanie J Kendall, Jodi E. Langley, M. McNeely, M. Keats, S. Grandy","doi":"10.3389/fcacs.2024.1389084","DOIUrl":"https://doi.org/10.3389/fcacs.2024.1389084","url":null,"abstract":"Strong evidence supports the recommendation that individuals living with or beyond cancer (LWBC) should be physically active and engage in physical exercise to enhance health and improve cancer-related outcomes. Many individuals LWBC are not achieving these benefits, partly due to a lack of resources. To address this, Activating Cancer Communities through an Exercise Strategy for Survivors (ACCESS) was developed to provide exercise programming and investigate exercise strategies and barriers for those LWBC.Using an effectiveness-implementation design, adults LWBC joined ACCESS by healthcare provider or self-referral. A clinical exercise physiologist triaged participants to either a hospital-based site or one of two community-based sites to complete a 12-week, 24-session multimodal individualized exercise program. Physical fitness and multiple patient-reported outcomes were measured pre- and post-intervention.Between January 2018 and March 2020, there were 332 referrals. Of these, 122 participants consented and completed the study. Completing ACCESS was associated with improvements in physical fitness and participant-reported outcomes, including general wellbeing, fatigue, negative emotional states, sleep quality, and exercise self-efficacy. The program was well-received by participants and was deemed feasible and acceptable from an implementation perspective.The ACCESS program demonstrably improved several health outcomes for individuals LWBC. Implementation outcomes have and continue to guide ongoing efforts to improve accessibility to ACCESS and work with the regional health authority and cancer care program to support the adoption of exercise into standard oncology care.clinicaltrials.gov, identifier [NCT03599843].","PeriodicalId":518971,"journal":{"name":"Frontiers in Cancer Control and Society","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140716917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Racial disparities in receipt of survivorship care plans among female cancer survivors in Maryland","authors":"Mu Jin, Miranda R. Jones, Avonne E. Connor","doi":"10.3389/fcacs.2023.1330410","DOIUrl":"https://doi.org/10.3389/fcacs.2023.1330410","url":null,"abstract":"With the increasing number of cancer survivors in the US, survivorship care plans (SCP) have been promoted to improve survivorship outcomes for cancer patients. Few studies have assessed if the receipt of SCPs differs by race/ethnicity. This study evaluated if racial/ethnic disparities exist in SCP receipt among female cancer survivors living in Maryland.Survey data were analyzed for 1,353 non-Hispanic white (NHW) and 280 non-Hispanic Black (NHB) women with a self-reported history of cancer living in Maryland who completed the Maryland Behavioral Risk Factor Surveillance Survey (BRFSS) between 2011 and 2020. Multivariable logistic regression models were used to estimate prevalence odds ratios (PORs) and 95% confidence intervals (CI) for SCP receipt by race/ethnicity. Models were further stratified by demographic, cancer-related, and lifestyle factors to examine effect modification.On average, survivors were 66.8 years of age at time of BRFSS survey and 53.5 years of age at time of cancer diagnosis. Compared with NHW survivors, NHB survivors reported higher odds of receiving a summary of cancer treatments (POR = 3.81, 95% CI: 2.27, 6.39), instructions from a doctor for follow-up check-ups (POR = 2.10, 95% CI: 1.00, 4.39), and written or printed instructions (POR = 4.74, 95% CI: 2.12, 10.61). Age at survey (<65 years vs. ≥65 years) (p-interaction term = 0.01) and income level (≤50k vs. >50k) (p-interaction term = 0.04) significantly modified the relationship between race/ethnicity and receiving SCPs.Our findings indicate that NHB female cancer survivors in Maryland are more likely to receive SCP information compared to NHW survivors and this association is significantly modified by age at survey and income level. More research is needed at the patient-provider level to gain a better understanding of the impact of SCP delivery to minority cancer populations.","PeriodicalId":518971,"journal":{"name":"Frontiers in Cancer Control and Society","volume":"74 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140532024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}