Year: 2026
Type: preprint
Study design: Observational Study
Abstract: ABSTRACT Identifying inherited cancer predisposition genes remains challenging. We leveraged the skin’s high UV-mutagenic burden to discover susceptibility genes by studying patients with high frequency of basal cell carcinomas (hfBCC). We found that hfBCC patients had three-fold higher internal malignancy prevalence and identified a novel candidate EPHB2 cancer susceptibility mutation associated with BCC and prostate cancer. These findings demonstrate the skin’s potential as a powerful platform for discovering cancer predisposition variants.
Source: medRxiv
Authors: Audris Chiang, Gayathri Swaminathan, Gaurav Luthria, Marlayna Harris, Haniyah Shareef, Shufeng Li, Vivian J. Hua, Warren H. Chan, Hyunje G. Cho, Michelle Jade Lin, Kiana Khalili, Jeanie Ramos, Hanh Do, Mahrukh Abdullah, Irene Bailey, Kerri E. Rieger, Jiali Han, Paul J. Utz, Christina Curtis, Anthony E. Oro, Kavita Y. Sarin
Institutions: Stanford Medicine, Stanford University, Icahn School of Medicine at Mount Sinai, University of California Davis Medical Center, University of California, Davis, Indiana University Health, Indiana University Indianapolis, Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indiana University
Language: English
Subfield: Dermatology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7220705386