Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition genes among high—risk hereditary breast cancer patients from Southern Italy. We employed next-generation sequencing (NGS) to analyze 254 individuals selected through genetic counseling. Pathogenic or likely pathogenic variants were identified in 13% (34/254) of patients, with 54% of these variants occurring in non-BRCA1/2 genes. Notably, we observed a recurrent BRCA1 c.4964_4982del founder mutation, underscoring the importance of population-specific genetic screening. The spectrum of variants extended beyond BRCA1/2 to include PALB2, ATM, TP53, CHEK2, and RAD51C, highlighting the genetic heterogeneity of breast cancer susceptibility. Variants of uncertain significance were detected in 20% of patients, emphasizing the ongoing challenge of variant interpretation in the era of multi-gene panel testing. These findings not only enhance our understanding of the genetic landscape of breast cancer in Southern Italy but also provide a foundation for developing more targeted, population-specific approaches to genetic testing and counseling, ultimately contributing to the advancement of precision medicine in oncology.

Background: The national guidelines, informed by evidence from the National Institutes of Health (NIH), define the criteria for genetic testing of BRCA1/2 and other genes associated with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS). When a germline pathogenic variant (PV) is identified in an index case, clinical recommendations advise informing at-risk relatives about the availability of predictive genetic testing, as early identification of carriers allows for timely implementation of preventive measures. Methods: This retrospective observational study examined data collected between 2017 and 2024 at the Medical Genetics Unit of the “Renato Dulbecco” University Hospital in Catanzaro, Italy. The analysis focused on trends in the identification of individuals carrying PVs in cancer predisposition genes (CPGs) and the subsequent uptake of cascade genetic testing (CGT) among their family members. Results: Over the study period, from 116 probands were performed 257 CGTs on 251 relatives. A notable reduction of approximately ten years in median age was observed, 39% were found to carry familial mutation and were referred to personalized cancer prevention programs. Among these, 62% accessed Oncological Genetic Counselling (CGO) within one year of the proband’s diagnosis, suggesting effective communication and outreach. Conclusions: The findings highlight the critical role of effective CGO and intrafamilial communication in hereditary cancer prevention. The identification of PVs, followed by timely CGTs and implementation of preventive strategies, significantly contributes to early cancer risk management. Periodic monitoring of CGT uptake and outcome trends, as demonstrated in this study, is essential to refine and optimize genetic services and public health strategies.

The book identifies the characteristics of comparative method in the social sciences and its applications in library and information science, analyzing aims, methodological problems, phases and approaches of comparative librarianship. It is a disciplinary field, still little explored in the Italian context, which aims to examine structures, services, practices and functions of libraries to highlight aspects and peculiarities in a defined context, relating different realities, analyzing causes and effects of emerged specificities and evaluating factors that influence their development. The reflection is enriched by a critical analysis of Italian and foreign comparative researches and by the proposal of a work outline to approach comparative librarianship.

According to the Central Brain Tumor Registry of the United States (CBTRUS), malignant primary brain tumors cause more than 15,000 deaths per year. The annual incidence is approximately 7 per 100,000 individuals and increases with age. The five-year survival rate is approximately 36%. Gliomas are the most prevalent and aggressive adult-type primary tumors of the central nervous system (CNS). These tumors range from lower-grade gliomas (LGGs) to the highly malignant glioblastoma multiforme (GBM), defined as isocitrate dehydrogenase (IDH)-wild-type diffuse glioma. Anatomic magnetic resonance imaging (MRI) and fluid-attenuated inversion recovery (FLAIR) are the gold standards for diagnosing and following up on GBM, providing macrostructural anatomical information. Despite many therapeutic strategies involving maximal surgical resection, radiotherapy, and alkylating chemotherapy, the prognosis remains poor. Gliomas are very low-immunogenic tumors, called “immune-cold,” located in a T-cell and other immune cell-poor CNS compartment, due to poor infiltration of cytotoxic T lymphocytes (CTLs) and the dominance of immunosuppressive myeloid populations. The extracellular matrix (ECM) and the blood-brain barrier (BBB) play a relevant role in maintaining the immunosuppressive tumor microenvironment (TME). It predominantly consists of microglia and macrophages, but it also includes other myeloid cells, such as bone marrow-derived macrophages (BMDMs), neutrophils, and myeloid-derived suppressor cells (MDSCs). Immunotherapy for CNS tumors, along with trials involving immune checkpoint inhibitors (ICIs), therapeutic vaccines, adoptive cell therapy, monoclonal antibodies, oncolytic viruses, and other molecules, promises to be an exciting avenue of research; however, novel approaches are needed. Classical immunohistochemical techniques or those combined with confocal microscopy can open up new frontiers in diagnostics and immunotherapy planning.

Background and Clinical Significance: The paper investigates the use of the Histolog^® Scanner, a confocal microscopy–based device, as a potential tool for intraoperative neuropathological diagnosis of brain tumors. Traditional intraoperative diagnosis, relying on frozen sections and squash preparations, can introduce artifacts and consume valuable tissue. The Histolog^® Scanner offers a plug-and-play solution capable of acquiring high-resolution images of fresh tissue surfaces in minutes while preserving tissue for further histological or molecular analyses. Cases Presentation: Three clinical cases—two women and one-man, mean age 57.3 years—undergoing neurosurgery for distinct brain lesions were included. Tissue samples were immersed in fluorescent dye, rinsed, and immediately analyzed with the Histolog^® Scanner before standard intraoperative histopathology. In the first case, a glioblastoma wild-type, traditional methods struggled to define tumor margins, whereas the device provided rapid, detailed imaging to guide resection. In the second case, a meningioma, the scanner confirmed lesion identity quickly, eliminating the need for a cryostat and reducing artifacts. In the third case, a brain metastasis, integration with cytological apposition allowed simultaneous assessment of lesion margins and nature without freezing the tissue. Conclusions: The Histolog^® Scanner demonstrated multiple advantages: rapid intraoperative use, clear margin visualization, preservation of tissue for subsequent analyses, reduce unnecessary resection, thereby helping to lower the risk of recurrence. This device may complement standard intraoperative methods, enhancing diagnostic accuracy and influencing postoperative treatment planning. Overall, the Histolog^® Scanner represents an innovative tool combining speed, precision, and tissue preservation, suggesting a promising role in establishing a new standard for intraoperative neurosurgical diagnosis.