Viviane Primo Basilio de Souza

The germline landscape of hereditary breast cancer has been characterized predominantly in populations of European ancestry, with limited evidence from populations with different demographic histories. We investigated germline diversity and genotype–phenotype associations in a single-center ambispective cohort at a tertiary referral cancer center in Brazil. Among 10,098 individuals who underwent germline genetic testing, 503 adults with invasive or microinvasive breast cancer met the predefined eligibility criteria and carried 514 pathogenic or likely pathogenic germline variants. Analyses assessed gene distribution, recurrent and founder variants, ecological diversity metrics, and associations with clinicopathological characteristics and survival outcomes. BRCA1 (31.6%) and BRCA2 (21.7%) were the most frequently altered susceptibility genes, followed by TP53 (13.1%), including the Brazilian founder variant TP53 p.R337H (10.7%). Diversity analyses indicated substantial heterogeneity beyond BRCA1/2. In exploratory unadjusted analyses, BRCA1-associated tumors more frequently exhibited triple-negative phenotype, high histological and nuclear grade, elevated Ki-67, and increased tumor-infiltrating lymphocytes, whereas tumors associated with BRCA2, ATM, CHEK2, and mismatch repair genes more frequently exhibited luminal phenotypes. Recurrent variants included alleles previously reported in different geographic and population contexts. Exploratory survival analyses detected no statistically significant differences among genetic groups within a five-year analytical horizon. These findings describe a heterogeneous germline spectrum and exploratory genotype–phenotype associations in a Brazilian cohort. Heterogeneous genetic testing coverage and the absence of individual genomic ancestry assessment limit interpretation; the findings should not be considered ancestry-specific or nationally representative. Further studies with uniform genetic testing and genomic ancestry assessment are warranted in broader Brazilian and Latin American cohorts.

Urinary tract infections are common during pregnancy and can lead to negative outcomes, such as pre-eclampsia, prematurity and low birth weight. Therefore, health professionals must diagnose them and propose appropriate antimicrobial treatment. The objective of this article is to review recent information on urinary tract infections during pregnancy, emphasizing the best antimicrobial therapy for each case. To this end, articles from the last five years were reviewed on the SciELO and PubMed platforms, available in English or Portuguese. Within the 27 studies found, those that addressed topics other than those covered in this research were excluded. As a result, 10 articles were selected. In addition, guiding reference documents on the topic were included, such as national and international protocols and guidelines. From them it was realized that, during pregnancy, it is essential to screen for asymptomatic bacteriuria through urine culture. The diagnosis of cystitis and pyelonephritis is clinical, through anamnesis and physical examination. In these cases, urine culture must be performed to identify the causative agent, which is especially important if resistant bacteria are found. There is different information regarding treatment in the articles researched. However, most texts considered nitrofurantoin, cephalosporins, phosphomycin and amoxicillin as adequate and safe options for the treatment of asymptomatic bacteriuria or cystitis, with duration of therapy depending on the chosen antimicrobial. For cases of pyelonephritis, the importance of hospitalizing the pregnant woman was explained, with cephalosporins selected as initial therapy. In short, there is conflicting information regarding the choice of antimicrobials and the recommended treatment duration for urinary tract infections during pregnancy. Therefore, more research is required to disseminate more accurate information, improve treatment and avoid bacterial selection.