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Lookup NU author(s): William Fostier
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© 2024 by American Society of Clinical Oncology.In the age of telehealth medicine, an individual’s facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition syndrome. These syndromes include APC-associated polyposis, Birt-Hogg-Dubé syndrome, CYLD cutaneous syndrome, hereditary leiomyomatosis and renal cell cancer, multiple endocrine neoplasia, neurofibromatosis type 1, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and tuberous sclerosis complex 1 and 2, among others. Correctly identifying characteristic features is important for genetic and nongenetic specialists as early detection can enable prompt intervention, improving patient outcomes. Advancements in the availability of genetic testing allow patients and their relatives to have more information about their genetic risk profile than before. These changes in clinical pathways, combined with improvements in screening and risk-reducing treatment, highlight the need to outline the cutaneous and morphologic features of high-risk cancer syndromes for clinicians. In this review, we describe the important facial features of hereditary cancer predisposition, with emphasis on diagnosis, cutaneous and extracutaneous manifestations, and screening.
Author(s): Horton A, Fostier W, Winship I, Rajan N
Publication type: Review
Publication status: Published
Journal: JCO Oncology Practice
Year: 2024
Volume: 20
Issue: 9
Pages: 1182-1197
Print publication date: 01/09/2024
Online publication date: 07/05/2024
Acceptance date: 02/04/2018
ISSN (print): 2688-1527
ISSN (electronic): 2688-1535
Publisher: Lippincott Williams and Wilkins
URL: https://doi.org/10.1200/OP.23.00610
DOI: 10.1200/OP.23.00610
PubMed id: 38713892
