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Leveraging Skin Mutagenesis to Uncover Genetic Cancer Susceptibilities

Chiang, A.; Swaminathan, G.; Luthria, G.; Harris, M.; Shareef, H.; Li, S.; Hua, V. J.; Chan, W. H.; Cho, H. G.; Lin, M. J.; Khalili, K.; Ramos, J.; Do, H.; Abdullah, M.; Bailey, I.; 23andMe Research Team, ; Rieger, K. E.; Han, J.; Utz, P. J.; Curtis, C.; Oro, A. E.; Sarin, K. Y.

2026-10-06 genetic and genomic medicine
10.64898/2026.10.02.26364350 medRxiv
Show 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.

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"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.