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We evaluated the prevalence of pathogenic/likely pathogenic germline variants (PGV) in Brazilian pancreatic adenocarcinoma (PC) patients, that represent a multiethnic population, in a cross-sectional study. We included 192 PC patients unselected for family history of cancer. We evaluated a panel of 113 cancer genes, through genomic DNA sequencing and 46 ancestry-informative markers, through multiplex PCR. The median age was 61 years; 63.5% of the patients presented disease clinical stages III or IV; 8.3% reported personal history of cancer; 4.7% and 16.1% reported first-degree relatives with PC or breast and/or prostate cancer, respectively. Although the main ancestry was European, there was considerable genetic composition admixture. Twelve patients (6.25%) were PGV carriers in PC predisposition genes (ATM, BRCA1, BRCA2, CDKN2A, MSH2, PALB2) and another 25 (13.0%) were PGV carriers in genes with a limited association or not previously associated with PC (ACD, BLM, BRIP1, CHEK2, ERCC4, FANCA, FANCE, FANCM, GALNT12, MITF, MRE11, MUTYH, POLE, RAD51B, RAD51C, RECQL4, SDHA, TERF2IP). The most frequently affected genes were CHEK2, ATM and FANC. In tumor samples from PGV carriers in ACD, BRIP1, MRE11, POLE, SDHA, TERF2IP, which were examined through exome sequencing, the main single base substitutions (SBS) mutational signature was SBS1+5+18, probably associated with age, tobacco smoking and reactive oxygen species. SBS3 associated with homologous repair deficiency was also represented, but on a lower scale. There was no difference in the frequency of PGV carriers between: (a) patients with or without first-degree relatives with cancer; and (b) patients with admixed ancestry versus those with predominantly European ancestry. Furthermore, there was no difference in overall survival between PGV carriers and non-carriers. Therefore, genetic testing should be offered to all Brazilian pancreatic cancer patients, regardless of their ancestry. Genes with limited or previously unrecognized associations with pancreatic cancer should be further investigated to clarify their role in cancer risk., (© 2024. The Author(s).)

Objectives: Cancer in young adults represents a great challenge, both biologically and socially, and understanding the unique characteristics of neoplasms in this age group is important to improving care. We aimed to evaluate the most common carcinomas and their characteristics, such as histological type and clinical stage, in young adults in the largest cancer hospital in Latin America., Methods: The hospital registry was consulted for the period between 2008 and 2014. Young adults were defined as individuals aged 18 to 39 years, and older adults were defined as individuals aged 40 years and older. Differences between age groups were assessed through chi-square tests., Results: Of the 39,389 patients included, 3,821 (9.7%) were young adults. Among the young adults, the most frequent cancer types were the following: breast, lymph node, colorectal, thyroid, testicle, hematopoietic and reticuloendothelial, uterine cervix, brain, soft tissue and stomach; these sites accounted for 74.5% of the observed tumors. Breast, colorectal and stomach cancers were more frequently diagnosed at advanced stages in young adults than in older adults (p<0.001). The most common histological types were infiltrating ductal carcinoma (86.12%) for breast cancer, adenocarcinomas not otherwise specified (45.35%) for colorectal cancer, squamous cell carcinoma not otherwise specified (65.26%) for uterine cervix cancer, signet ring cell adenocarcinomas (49.32%) for stomach cancer and adenocarcinomas not otherwise specified (50.79%) for lung cancer., Conclusion: Young adults are diagnosed with cancer at more advanced stages, indicating that health professionals should be aware of cancer incidence in this age group. It is necessary to develop a better understanding of cancer in young adults and to implement dedicated health care strategies for these patients.

Introduction: Colorectal cancer (CRC) is the most common type of gastrointestinal malignancies and the third leading cause of cancer-related deaths for both sexes worldwide. Although the burden of CRC is highest in developed countries, reports are indicating a rise in the incidence of early-onset CRC in developing countries. In this study, we aimed to determine the prevalence of CRC among patients hospitalized with lower gastrointestinal complaints at a tertiary health facility in Uganda. Methods: We conducted a 10-year retrospective chart review of patients admitted to Mulago National Referral Hospital in Kampala, Uganda, between 1st January 2010 and 31st December 2020. We reviewed all charts of patients admitted to the lower gastrointestinal tract (GIT) ward. Charts with grossly missing data, pediatric patients, and those from other non-lower GIT specialties were excluded. Results: Data of 1476 unique eligible patients were analyzed. Of these,138 had a diagnosis of CRC (prevalence: 9.3%, 95% confidence interval (95% CI): 6.5– 11.7%). Among patients with CRC, the female:male ratio was 1:1. The most common site for CRC was the rectum (59.8%, n= 79). For the 138 participants with CRC, 44 had staging data with 72.8% (n=32) having advanced disease, that is, stage 3 or 4. Factors independently associated with CRC were age ≥ 50 years (adjusted odds ratio (aOR): 4.3, 95% CI: 2.6– 7.1, p < 0.001), female sex (aOR: 1.8, 95% CI: 1.2 − 2.8, p = 0.005), being widowed (aOR: 2.5, 95% CI: 1.3– 5.0, p = 0.006), and presence of any risk factor for CRC (aOR: 5.3, 95% CI: 2.9– 9.9, p < 0.001). Conclusion: CRC is relatively common among patients hospitalized with lower GIT complaints, particularly among women and those with known risk factors for CRC. Awareness creation and screening programs should be instituted to allow early diagnosis of CRC in our setting. [ABSTRACT FROM AUTHOR]