medRxivGenetic & Genomic MedicinePreprint
Leveraging Skin Mutagenesis to Uncover Genetic Cancer Susceptibilities
Audris ChiangiD, Gayathri SwaminathaniD, Gaurav LuthriaiD, Marlayna Harris, Haniyah ShareefiD, Shufeng LiiD, Vivian J. Hua, Warren ChaniD, Hyunje Grace Cho, Michelle Jade Lin, Kiana Khalili, J. Ramos, Hanh DoiD, Mahrukh Abdullah, Irene BaileyiD, Kerri E. RiegeriD, Jiali HaniD, Paul J. UtziD, Christina N. CurtisiD, Anthony E. OroiD, Kavita Yang SariniD
Abstract
Identifying inherited cancer predisposition genes remains challenging. We leveraged the skins 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 skins potential as a powerful platform for discovering cancer predisposition variants.
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