Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis.

(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer's development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.

Honey bees and climate explain viral prevalence in wild bee communities on a continental scale.

Viruses are omnipresent, yet the knowledge on drivers of viral prevalence in wild host populations is often limited. Biotic factors, such as sympatric managed host species, as well as abiotic factors, such as climatic variables, are likely to impact viral prevalence. Managed and wild bees, which harbor several multi-host viruses with a mostly fecal-oral between-species transmission route, provide an excellent system with which to test for the impact of biotic and abiotic factors on viral prevalence in wild host populations. Here we show on a continental scale that the prevalence of three broad host viruses: the AKI-complex (Acute bee paralysis virus, Kashmir bee virus and Israeli acute paralysis virus), Deformed wing virus, and Slow bee paralysis virus in wild bee populations (bumble bees and solitary bees) is positively related to viral prevalence of sympatric honey bees as well as being impacted by climatic variables. The former highlights the need for good beekeeping practices, including Varroa destructor management to reduce honey bee viral infection and hive placement. Furthermore, we found that viral prevalence in wild bees is at its lowest at the extreme ends of both temperature and precipitation ranges. Under predicted climate change, the frequency of extremes in precipitation and temperature will continue to increase and may hence impact viral prevalence in wild bee communities.

DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.

The prevalence of breast cancer in young women (YWBC) has increased alarmingly. Significant efforts are being made to elucidate the biological mechanisms concerning the development, prognosis, and pathological response in early-onset breast cancer (BC) patients. Dysfunctional DNA repair proteins are implied in BC predisposition, progression, and therapy response, underscoring the need for further analyses on DNA repair genes. Public databases of large patient datasets such as METABRIC, TCGA, COSMIC, and cancer cell lines allow the identification of variants in DNA repair genes and possible precision drug candidates. This study aimed at identifying variants and drug candidates that may benefit Latin American (LA) YWBC. We analyzed pathogenic variants in 90 genes involved in DNA repair in public BC datasets from METABRIC, TCGA, COSMIC, CCLE, and COSMIC Cell Lines Project. Results showed that reported DNA repair germline variants in the LA dataset are underrepresented in large databases, in contrast to other populations. Additionally, only six gene repair variants in women under 50 years old from the study population were reported in BC cell lines. Therefore, there is a need for new approaches to study DNA repair variants reported in young women from LA.

The Effect of Migratory Beekeeping on the Infestation Rate of Parasites in Honey Bee (Apis mellifera) Colonies and on Their Genetic Variability.

Migratory beekeeping is a widely extended practice aimed at increasing the yield of products and pollination services of honey bee colonies. However, it represents a stress factor, as it facilitates the dissemination of diseases and may compromise the genetic identity of the colonies involved. To analyze the extent of these effects, pathogens infestation rate and genetic composition were monitored in a field experiment comparing stationary and migratory colonies sharing the same environmental conditions but differing in management (stationary vs. migratory) and genetic background. We studied the pathogens infestation rate (Varroa destructor, Nosema spp., and Deformed Wing Virus (DWV)) at four different times: before migratory operation, two weeks later, at the end of the migratory period, and two weeks after the return of the migratory hives. An increased incidence of V. destructor and Nosema ceranae and a lower DWV viral load were found in migratory colonies. Temporary changes in genetic diversity were detected regardless of colony type, suggesting that stressors other than management affect the genetic diversity of the colonies. Our study demonstrates that migratory practices have variable effects on the health and genetic diversity of honey bee colonies, which should be taken into account for the development of sustainable beekeeping.

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH2, and BARD1. These genes are involved in DNA repair. Most of these variants have been reported for Caucasian, Jewish, and Asian population, with few reports for other communities, like those in Latin American (LA) countries. We reviewed 81 studies from 11 LA countries published between 2000 and 2019 but most of these studies focused on BRCA1/2 genes. In addition to these genes, breast cancer-related variants have been reported for PALB2, ATM, CHEK2, BARD1, MLH1, BRIP1, MSH2, NBN, MSH6, and PMS2 genes. Some of these variants are unique to LA populations. This analysis may contribute to enhance breast cancer variant characterization, and thus to find therapies and implement precision medicine for LA communities.

SNPs selected by information content outperform randomly selected microsatellite loci for delineating genetic identification and introgression in the endangered dark European honeybee (Apis mellifera mellifera).

The honeybee (Apis mellifera) has been threatened by multiple factors including pests and pathogens, pesticides and loss of locally adapted gene complexes due to replacement and introgression. In western Europe, the genetic integrity of the native A. m. mellifera (M-lineage) is endangered due to trading and intensive queen breeding with commercial subspecies of eastern European ancestry (C-lineage). Effective conservation actions require reliable molecular tools to identify pure-bred A. m. mellifera colonies. Microsatellites have been preferred for identification of A. m. mellifera stocks across conservation centres. However, owing to high throughput, easy transferability between laboratories and low genotyping error, SNPs promise to become popular. Here, we compared the resolving power of a widely utilized microsatellite set to detect structure and introgression with that of different sets that combine a variable number of SNPs selected for their information content and genomic proximity to the microsatellite loci. Contrary to every SNP data set, microsatellites did not discriminate between the two lineages in the PCA space. Mean introgression proportions were identical across the two marker types, although at the individual level, microsatellites' performance was relatively poor at the upper range of Q-values, a result reflected by their lower precision. Our results suggest that SNPs are more accurate and powerful than microsatellites for identification of A. m. mellifera colonies, especially when they are selected by information content.

Stable genetic diversity despite parasite and pathogen spread in honey bee colonies.

In the last decades, the rapid spread of diseases, such as varroosis and nosemosis, associated with massive honey bee colonies mortality around the world has significantly decreased the number and size of honey bee populations and possibly their genetic diversity. Here, we compare the genetic diversity of Iberian honey bee colonies in two samplings performed in 2006 and 2010 in relation to the presence of the pathogenic agents Nosema apis, Nosema ceranae, and Varroa destructor in order to determine whether parasite and pathogen spread in honey bee colonies reflects changes in genetic diversity. We found that the genetic diversity remained similar, while the incidence of N. ceranae increased and the incidence of N. apis and V. destructor decreased slightly. These results indicate that the genetic diversity was not affected by the presence of these pathogenic agents in the analyzed period. However, the two groups of colonies with and without Nosema/Varroa detected showed significant genetic differentiation (G test). A detailed analysis of the allelic segregation of microsatellite loci in Nosema/Varroa-negative colonies and parasitized ones revealed two outlier loci related to genes involved in immune response.

Population Genetics of Nosema apis and Nosema ceranae: One Host (Apis mellifera) and Two Different Histories.

Two microsporidians are known to infect honey bees: Nosema apis and Nosema ceranae. Whereas population genetics data for the latter have been released in the last few years, such information is still missing for N. apis. Here we analyze the patterns of nucleotide polymorphism at three single-copy loci (PTP2, PTP3 and RPB1) in a collection of Apis mellifera isolates from all over the world, naturally infected either with N. apis (N = 22) or N. ceranae (N = 23), to provide new insights into the genetic diversity, demography and evolution of N. apis, as well as to compare them with evidence from N. ceranae. Neutral variation in N. apis and N. ceranae is of the order of 1%. This amount of diversity suggests that there is no substantial differentiation between the genetic content of the two nuclei present in these parasites, and evidence for genetic recombination provides a putative mechanism for the flow of genetic information between chromosomes. The analysis of the frequency spectrum of neutral variants reveals a significant surplus of low frequency variants, particularly in N. ceranae, and suggests that the populations of the two pathogens are not in mutation-drift equilibrium and that they have experienced a population expansion. Most of the variation in both species occurs within honey bee colonies (between 62%-90% of the total genetic variance), although in N. apis there is evidence for differentiation between parasites isolated from distinct A. mellifera lineages (20%-34% of the total variance), specifically between those collected from lineages A and C (or M). This scenario is consistent with a long-term host-parasite relationship and contrasts with the lack of differentiation observed among host-lineages in N. ceranae (< 4% of the variance), which suggests that the spread of this emergent pathogen throughout the A. mellifera worldwide population is a recent event.

Vulnerabilidad social y conductas sexuales de riesgo en un grupo de adolescentes chilenos, 2009. Estudio de corte transversal / A cross-sectional study of social vulnerability and risky sexual conduct in a group of Chilean adolescents, 2009

Objetivo: analizar la relación entre vulnerabilidad social y conductas sexuales de riesgo en un grupo de adolescentes chilenos. Materiales y métodos: estudio transversal en adolescentes de la comuna Chiguayante, región del Bío-Bío, Chile, año 2009. La muestra fue de 297 adolescentes, 154 mujeres y 143 varones. Se utilizó la ficha CLAP OPS/OMS y un instrumento de vulnerabilidad social y conducta sexual. Se aplicó t-Student y Ji 2 (p < 0,05). Resultados: la edad promedio fue 16,5 ± 1,5 años en varones y 16,4 ± 1,5 mujeres. El 63% vive con ambos padres. El 74% describe sus relaciones familiares como buenas y excelentes. El 44% de los adolescentes que han iniciado actividad sexual definen sus relaciones familiares como regulares, malas o sin relación frente al 20% que no ha iniciado actividad sexual (p = 0,033); el 62% de los adolescentes que han iniciado actividad sexual percibe escaso o nulo apoyo familiar frente al 42% de los adolescentes que no han iniciado actividad sexual (p = 0,0031). El 51% señala que hay delincuencia en su entorno social próximo. No hubo diferencias significativas al asociar variables de vulnerabilidad social con uso de métodos anticonceptivos y el número de parejas sexuales. Las relaciones sexuales asociadas al consumo de alcohol y drogas fueron superiores en varones (21%) que en mujeres (10%) (p = 0,019); las relaciones sexuales sin protección fueron superiores en mujeres (35%) que en varones (20%) (p = 0,05).Conclusión: se reconoce la importancia de la familia en el proceso de formación de la conducta sexual de las y los adolescentes.

Objective: Analyzing the relationship between social vulnerability and risky sexual conduct in a group of Chilean adolescents. Materials and methods: This was a crosssectional study of adolescents living in the Chiguayante commune in the Bío-Bío region of Chile, during 2009. The sample consisted of 297 adolescents (154 female, 143 male). PAHO/WHO Latin-American Perinatology Centre record cards and a social vulnerability and sexual conduct instrument were used. Student’s t-test and the chi-square test (p < 0.05) were used for analyzing the data. Results: Average age was 16.5 ± 1.5 years for males and 16.4 ± 1.5 for females; 63% lived with both parents, 74% described their family relationships as being good and/or excellent. 44% of the adolescents in the study who had begun sexual activity defined their family relationships as regular, poor or lacking compared to 20% who had not begun sexual activity (p = 0.033). 62% of the adolescents who had begun sexual activity perceived very limited or no family support compared to 42% of them who had not initiated sexual activity stating the same (p = 0.0031). 51% stated that there was delinquency in their close social setting. There were no significant differences when associating social vulnerability with using conceptive methods and number of sexual partners. Sexual relationships associated with drinking alcohol and taking drugs was greater in males (21%) than in females (10%) (p = 0.019). Engaging in unprotected sexual relationships was greater in females (35%) than in males (20%), (p = 0.05).Conclusion: It was recognized that the family played an important role in forming adolescents' sexual conduct.

Linking evolutionary lineage with parasite and pathogen prevalence in the Iberian honey bee.

The recent decline in honey bee colonies observed in both European countries and worldwide is of great interest and concern, although the underlying causes remain poorly understood. In recent years, growing evidence has implicated parasites and pathogens in this decline of both the vitality and number of honey bee colonies. The Iberian Peninsula provides an interesting environment in which to study the occurrence of pathogens and parasites in the host honey bee populations due to the presence of two evolutionary lineages in A. m. iberiensis (Western European [M] or African [A]). Here, we provide the first evidence linking the population structure of the Iberian honey bee with the prevalence of some of its most important parasites and pathogens: the Varroa destructor mite and the microsporidia Nosema apis and Nosema ceranae. Using data collected in two surveys conducted in 2006 and 2010 in 41 Spanish provinces, the evolutionary lineage and the presence of the three parasitic organisms cited above were analyzed in a total of 228 colonies. In 2006 N. apis was found in a significantly higher proportion of M lineage honey bees than in the A lineage. However, in 2010 this situation had changed significantly due to a higher prevalence of N. ceranae. We observed no significant relationships in either year between the distributions of V. destructor or N. ceranae and the evolutionary lineage present in A. m. iberiensis colonies, but the effects of these organisms on the genetic diversity of the honey bee populations need further research.