Supplementary Figure S2 from Whole-exome Sequencing in Penile Squamous Cell Carcinoma Uncovers Novel Prognostic Categorization and Drug Targets Similar to Head and Neck Squamous Cell Carcinoma
Year: 2023
Type: supplementary-materials
Abstract: Figure S2 - PSCC driver genes estimated by mutation positional analysis as described by Tamborero et al. (2013). PIK3CA gain of function mutations were detected in 20.6% of PSCC patients and were enriched in known hotspots in the C2 (E453K, n=1) and in the helical domains (E545K/G, n=4 and E542K, n=2). CDKN2A mutations affected 29.4% of PSCC patients, involving the major known mutation hotspots W110* (n=3, likely pathogenic), R80* (n=2, pathogenic), R58* (n=1, pathogenic), R88* (n=1, pathogenic). The other CDKN2A mutations observed were less common, such as the G65fs (n=1), D108G (n=1) and R115fs (n=1) of uncertain significance.
Language: English
Topic: Genital Health and Disease
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4362411709