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Germline variants in cancer susceptibility genes among patients with mucosal melanoma

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By Afsaneh Amouzegar, Xiaogang Wu, James Long, Gabriela Chen, Justin Wong, Curtis Gumbs, Jared C. Malke, Julie Simon, Jianhua Zhang, Priyadharsini Nagarajan, michael davies, Hussein Tawbi, Rodabe N. Amaria, Alexandra Ikeguchi, Shirley Y Su, Ehab Hanna, Roi Weiser, Brian K. Bednarski, Travis Sims, Devarati Mitra, Jennifer Wargo, Jeffrey E. Gershenwald, Paul Scheet, Yao Yu, Kelly Nelson, Jennifer McQuade, P. Andrew Futreal, Sabitha Prabhakaran, Latasha Little, Neus Bota, Isabella C. Glitza Oliva, Chad Huff
| Nature
Abstract Mucosal melanoma (MM) is a rare and aggressive melanoma subtype with poor outcomes and poorly understood risk factors, including the contribution of germline pathogenic variants (PVs). In this study, 346 MM patients treated at MD Anderson Cancer Center underwent germline sequencing of 322 known cancer susceptibility genes, with PV frequencies compared to population controls (gnomAD and TOPMed) using Fisher’s exact test.
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