An Unexpected Case of Somatic Mosaicism of the Dutch p16- Founder Variant in the Gene.

is the primary high-risk predisposition gene for familial cutaneous melanoma. In the Netherlands, most carriers of pathogenic germline variants in harbor a unique, population-specific founder variant, c.225_243del, commonly referred to as p16-.

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

MCM8 and MCM9 are newly proposed cancer predisposition genes, linked to polyposis and early-onset cancer, in addition to their previously established association with hypogonadism. Given the uncertain range of phenotypic manifestations and unclear cancer risk estimates, this study aimed to delineate the molecular and clinical characteristics of biallelic germline MCM8/MCM9 variant carriers. We found significant enrichment of biallelic MCM9 variants in individuals with colonic polyps (odds ratio [OR] 6.

Mapping and quantifying travel time to define health facility catchment areas in Blantyre city in Malawi.

Background: Mapping health facility catchment areas is important for estimating the population that uses the health facility, as a denominator for capturing spatial patterns of disease burden across space. Mapping activities to generate catchment areas are expensive exercises and are often not repeated on a regular basis.

Methods: In this work, we demonstrated the generation of facility catchment areas in Blantyre, Malawi using crowdsourced road data and open-source mapping tools.

Advancing Early Warning Systems for Malaria: Progress, challenges, and future directions - A scoping review.

Malaria Early Warning Systems (EWS) are predictive tools that often use climatic and other environmental variables to forecast malaria risk and trigger timely interventions. Despite their potential benefits, the development and implementation of malaria EWS face significant challenges and limitations. We reviewed the current evidence on malaria EWS, including their settings, methods, performance, actions, and evaluation.

Recurrent MDM2 Amplification in the Spectrum of HMGA2-Altered Pleomorphic Adenoma, Atypical Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma.

Introduction: Pleomorphic adenoma is the most common neoplasm of the salivary glands. While the overall risk of malignancy is relatively low, a distinct molecular sub-group harboring HMGA2 alterations seems to show an increased risk of malignant progression to carcinoma ex pleomorphic adenoma.

Purpose: This study investigates MDM2 amplification in HMGA2-altered pleomorphic adenoma, atypical pleomorphic adenoma, and carcinoma ex pleomorphic adenoma.