Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
携带MUTYH和NTHL1基因致病性双等位基因变异的个体所患腺瘤表现出与结直肠癌相似的碱基切除修复肿瘤突变特征谱，从而拓展了其在诊断和变异分类方面的潜在应用。
期刊:Translational Oncology
影响因子:4.1
doi:10.1016/j.tranon.2024.102266
Walker, Romy; Joo, Jihoon E; Mahmood, Khalid; Clendenning, Mark; Como, Julia; Preston, Susan G; Joseland, Sharelle; Pope, Bernard J; Medeiros, Ana B D; Murillo, Brenely V; Pachter, Nicholas; Sweet, Kevin; Spigelman, Allan D; Groves, Alexandra; Gleeson, Margaret; Bernatowicz, Krzysztof; Poplawski, Nicola; Andrews, Lesley; Healey, Emma; Gallinger, Steven; Grant, Robert C; Win, Aung K; Hopper, John L; Jenkins, Mark A; Torrezan, Giovana T; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid M; Buchanan, Daniel D; Georgeson, Peter
