Results 221 to 230 of about 34,649 (263)
PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function. [PDF]
Shao L +8 more
europepmc +1 more source
Abstract Objective Calcitonin gene‐related peptide (CGRP) inhibitors, including monoclonal antibodies (mAbs) and small‐molecule antagonists (gepants), have transformed migraine treatment. Although clinical trials established their efficacy and initial safety, post‐marketing surveillance is essential for understanding their real‐world safety profile in ...
Martina Giacon, Salvatore Terrazzino
wiley +1 more source
Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report. [PDF]
Franco S +3 more
europepmc +1 more source
This study establishes the role of high‐risk HPV infection in cutaneous sebaceous carcinoma of the genital area. An intraepithelial component in a subset of cases poses a challenge to distinguish the entity from squamous cell carcinoma in situ. Rarely, sebaceous neoplasia of the genital area is associated with Muir–Torre syndrome. Aims This study aimed
Katharina Wiedemeyer +5 more
wiley +1 more source
Functional characterization of SDHB variants: Advancing succinate dehydrogenase biology and variant curation in hereditary paraganglioma. [PDF]
Clifton-Bligh R.
europepmc +1 more source
Molecular pathology of phyllodes tumours of the breast—much more than MED12
Phyllodes tumours can develop from fibroadenomas bearing MED12 variants by the development of pTERT alterations (“MED12 pathway”) or de novo (“MED12 independent pathway”). Grade progression is associated with increasing genetic complexity including cancer driver gene aberrations. Molecular alterations can be useful in assigning grade and distinguishing
Jia‐Min B Pang +3 more
wiley +1 more source
Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study. [PDF]
López Rivera JJ +9 more
europepmc +1 more source
Changes and new entities in the 6th edition WCT of the digestive system, including structural, molecular, and diagnostic updates to standardize terminology and improve clinical relevance. Epithelial tumours are organized by site; neuroendocrine, mesenchymal and haematolymphoid tumours have dedicated chapters, with refined grading, redefined ...
Mark J Arends +48 more
wiley +1 more source
Familial Non-Hereditary Gastric Cancer: Diagnosis, Management, Molecular Characteristics and Future Perspective. [PDF]
Pardo C +4 more
europepmc +1 more source
Sessile serrated lesions with dysplasia represent a critical step in colorectal carcinogenesis. While routine histologic diagnosis is generally reliable and positive diagnostic trends are observed, subtle dysplastic changes may be overlooked. Targeted use of MLH1 immunohistochemistry provides meaningful diagnostic support in selected sessile serrated ...
Valentina Angerilli +9 more
wiley +1 more source

