Research summary
Sequencing-driven cancer genetics anchors this body of work. Targeted resequencing of colorectal adenomas and carcinomas at successive stages mapped a stepwise accumulation of ras mutations and allelic losses on chromosomes 5, 17, and 18, framing tumor progression as a multi-step genetic process [4]. A complementary survey of p53 across colon, lung, esophagus, breast, liver, brain, and lymphoid lineages catalogued mutational hotspots in the gene's evolutionarily conserved codons and showed that the spectrum of base changes carries imprints of distinct mutagenic exposures [2]. Building on this single-gene work, a synthesis paper summarized exome- and genome-scale sequencing across common adult tumors and proposed the "mountains and hills" model, in which a handful of driver genes recur at high frequency alongside many infrequently mutated drivers, with mutational signatures clustering into a limited set of cellular processes [3]. Whole-exome sequencing of 22 glioblastomas plus copy-number and expression profiling identified recurrent alterations in TP53, RB1, PI3K, and the unexpected presence of IDH1 mutations [7]. Follow-up sequencing of 445 central nervous system tumors localized IDH1 R132 and analogous IDH2 R172 substitutions overwhelmingly to grade II–III gliomas and secondary glioblastomas, and linked their presence to longer overall survival [6]. The lab also converted these genetic insights into immunotherapy biomarkers. A pilot trial of pembrolizumab stratified by mismatch-repair status showed that mismatch-repair–deficient colorectal cancers had a 40% immune-related objective response rate versus 0% in proficient tumors, with whole-exome data showing a mean of 1,782 somatic mutations per tumor in deficient cases [1]. An expanded basket study of 12 tumor types reinforced that mismatch-repair deficiency, irrespective of tissue of origin, predicts durable response to PD-1 blockade and provided rationale for the agnostic approval of pembrolizumab in such tumors [5]. Across these papers the through-line is using comprehensive mutation catalogues to identify driver events and translate them into diagnostic and therapeutic decisions.
Recent publications
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityDOI
- A genetic model for colorectal tumorigenesisDOI
- PD-1 Blockade in Tumors with Mismatch-Repair DeficiencyDOI
- p53 Mutations in Human CancersDOI
- Cancer Genome LandscapesDOI
- Genetic Alterations during Colorectal-Tumor DevelopmentDOI
- Surfing the p53 networkDOI
- Mismatch repair deficiency predicts response of solid tumors to PD-1 blockadeDOI
- IDH1andIDH2Mutations in GliomasDOI
- An Integrated Genomic Analysis of Human Glioblastoma MultiformeDOI
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How to apply
Email Bert Vogelstein 6-12 months before your application deadline. Read several recent papers and reference specific work in your message. Use our how to email a Japanese professor guide for the proven email structure.
For applications via MEXT scholarship: see our MEXT 2027 complete guide and university-specific University Recommendation track.
External profiles
- ORCID: https://orcid.org/0000-0003-0766-3854
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, Kyoto University faculty directory). Last refreshed 2026-05. Report incorrect information.