主页 文献库文献详情
PMID: 41991531 已发表 · epublish 英语

Clonal biases dictate availability of colonic cancer driver mutations for transformation.

Nature communications ·第 17 卷 ·第 1 期 ·2026-04-16

Skoufou-Papoutsaki N, Kemp R, Adler S, Marks K, Girard AC, Mehmed S, Lourenço FC, Moutin EB, Ten Hoopen R, Morrissey E, Winton DJ, Tourigny DS

摘要

Aged normal tissues harbour cancer mutations predisposing to transformation. However, how different pro-oncogenic events in the human colon compare in frequency, behaviour and subsequent transformation risk remains unclear. Here, we analyse mutation hotspot regions in five colorectal cancer genes (APC, KRAS, TP53, FBXW7 and CTNNB1) using targeted sequencing of 76,800 normal colonic glands from 56 patients. We show that cancer-driving mutations are present in all genes in histologically normal tissue. Reconstruction of clone dynamics reveals that FBXW7 R465C mutations preferentially become fixed within the tissue, whereas KRAS G12 mutations strongly promote expansion. Modelling mutation order indicates that early loss of both APC copies increasingly favours an APC-first pathway with age, while KRAS activation is equally likely to initiate events in younger individuals. Spatial transcriptomics highlights phenotypic heterogeneity among KRAS mutant clones, with mixed lineage presentation observed only in a subset, a state linked to elevated transformation risk in other organs.

文献信息
期刊
Nature communications
期刊简称
Nat Commun
ISSN
2041-1723
发表日期
2026-04-16
语言
英语
国家/地区
England
NLM ID
101528555
分析服务
分析服务

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话: 0531-88819269

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。


商务邮箱

E-mail: [email protected]