Facial Features of Hereditary Cancer Predisposition.

Bibliographic Details
Title: Facial Features of Hereditary Cancer Predisposition.
Authors: Horton, Ari, Fostier, William, Winship, Ingrid, Rajan, Neil
Source: JCO Oncology Practice; Sep2024, Vol. 20 Issue 9, p1182-1197, 16p
Subject Terms: GENETIC disorder diagnosis, FACE, RISK assessment, MULTIPLE endocrine neoplasia, STOMACH tumors, SKIN tumors, CUTANEOUS manifestations of general diseases, EARLY detection of cancer, BIRT-Hogg-Dube syndrome, TUBEROUS sclerosis, COWDEN syndrome, COLORECTAL cancer, UTERINE fibroids, RENAL cell carcinoma, GENETIC testing, HEREDITARY cancer syndromes, ENDOCRINE gland tumors
Abstract: 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. [ABSTRACT FROM AUTHOR]
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Database: Complementary Index
More Details
ISSN:26881527
DOI:10.1200/OP.23.00610
Published in:JCO Oncology Practice
Language:English