Mario Balsa, Medical Oncology Resident at Catalan Institute of Oncology, shared on X:
“Germline pathogenic variants in 10.7% (37/346)
- CHEK2, ATM and MITF were most frequent
- MITF p.E318K (OR 6.0) and CHEK2 c.1100delC (OR 6.7) enriched vs population controls
- ≥2 affected first-degree relatives: 49.0% vs 29.1% (P=0.019).”
Title: Germline variants in cancer susceptibility genes among patients with mucosal melanoma
Authors: Afsaneh Amouzegar, Xiaogang Wu, James P. Long, Gabriela W. Chen, Justin W. Wong, Sabitha Prabhakaran, Latasha Little, Curtis Gumbs, Neus Bota, Jared Malke, Julie Simon, Jianhua Zhang, Priyadharsini Nagarajan, Michael A. Davies, Hussein Tawbi, Rodabe N. Amaria, Isabella C. Glitza Oliva, Alexandra P. Ikeguchi, Shirley Su, Ehab Y. Hanna, Roi Weiser, Brian Bednarski, Travis T. Sims, Devarati Mitra, Jennifer Wargo, Jeffrey E. Gershenwald, Paul Scheet, Yao Yu, Chad Huff, Kelly C. Nelson, Jennifer L. McQuade, P. Andrew Futreal.
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