Ian Tomlinson
伊恩·汤姆林森
MB BChir, PhD, FMedSci
Professor of Cancer Genetics; Director, Cancer Research UK Scotland Centre癌症遗传学教授；英国癌症研究苏格兰中心主任
👥Biography 个人简介
Ian Tomlinson is one of the world's foremost cancer geneticists, renowned for his comprehensive contributions to understanding the inherited and somatic genetic basis of colorectal cancer. His laboratory discovered the association of POLE and POLD1 proofreading-domain mutations with hereditary colorectal and endometrial cancer predisposition, uncovering an ultramutator phenotype with distinctive immunogenic features. He has also led numerous genome-wide association studies (GWAS) identifying low-penetrance susceptibility loci for CRC, collectively accounting for a significant fraction of colorectal cancer heritability.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
POLE/POLD1 Mutations and Hereditary CRC Predisposition
Discovered germline mutations in the exonuclease (proofreading) domains of POLE and POLD1 as causes of familial colorectal and endometrial cancer, defining the polymerase proofreading-associated polyposis (PPAP) syndrome and linking ultramutation to exceptional immunotherapy sensitivity.
Colorectal Cancer GWAS and Susceptibility Loci
Led and co-led multiple large-scale GWAS identifying dozens of common genetic variants associated with CRC susceptibility, enabling polygenic risk score development and improving population-level risk stratification for screening programmes.
Somatic Evolution and Clonal Dynamics in CRC
Conducted landmark studies on the evolutionary dynamics of colorectal tumour development, characterizing clonal architecture, driver gene selection, and the timing of key somatic events in the adenoma-to-carcinoma sequence.
Representative Works 代表性著作
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Nature Genetics (2013)
Discovery paper identifying POLE/POLD1 germline proofreading mutations as causes of hereditary CRC, founding a new class of cancer predisposition syndrome with extreme tumour mutational burden.
Genome-wide association study identifies multiple susceptibility loci for colorectal cancer
Nature Genetics (2019)
Large GWAS meta-analysis identifying 40 novel CRC risk loci, substantially expanding the polygenic architecture of colorectal cancer susceptibility.
🏆Awards & Recognition 奖项与荣誉
📄Data Sources 数据来源
Last updated: 2026-01-15 | All information from publicly available academic sources
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