This paper introduces SATS, a framework for mutational signature analysis in targeted sequencing data, and presents a pan-cancer catalogue of mutational signatures from 111,711 tumors.

medRxiv · May 18, 2023 · PreprintGenetic & Genomic Medicine

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Kevin M. Brown, Mai Xu, Michael R. Sargen, Hyunbum Jang, Mingzhen Zhang, Tongwu Zhang, Bin Zhu, Kristie Jones, Jung Kim, Laura Mendoza, Nicholas K. Hayward, Margaret Anne Tucker, Alisa M. Goldstein, Xiaohong Rose Yang, Douglas R. Stewart, , Maria Teresa Landi

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.

Familial Cancer · Jul 2, 2021Peer-reviewedGenetic & Genomic Medicine

Immune gene expression profiling reveals heterogeneity in luminal breast tumors

Bin Zhu, Lap Ah Tse, Difei Wang, Hela Koka, Tongwu Zhang, Mustapha Abubakar, Priscilla Ming Yi Lee, Feng Wang, Çherry Wu, Koon Ho Tsang, Wing-cheong Chan, Sze Hong Law, Mengjie Li, Wentao Li, S.Y. Wu, , Xiaohong Rose Yang

The paper identifies three immune subtypes in luminal breast cancer through immune gene expression profiling and links them to distinct genomic and clinical features.

Breast Cancer Research · Dec 1, 2019Peer-reviewedGenomics