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Translational Medicine / 转化医学precision oncology biomarkers

Nicola Valeri

尼古拉·瓦莱里

MD, PhD

🏢The Institute of Cancer Research / The Royal Marsden NHS Foundation Trust(英国癌症研究所 / 皇家马斯登医院)🌐UK

Professor of Molecular Pathology; Consultant Medical Oncologist分子病理学教授;顾问医学肿瘤科医生

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Nicola Valeri, MD, PhD is Professor of Molecular Pathology at The Institute of Cancer Research (ICR) and Consultant Medical Oncologist at The Royal Marsden NHS Foundation Trust in London. He is a leading European authority on mismatch repair deficiency (dMMR) and microsatellite instability-high (MSI-H) as biomarkers for immunotherapy, particularly in gastrointestinal cancers. His laboratory has made seminal contributions to the biology of dMMR in colorectal and gastric cancer, including characterizing mechanisms of secondary MMR loss and POLE/POLD1 mutations as alternative hypermutation pathways. Valeri's translational work has contributed to standardizing MSI-H/dMMR testing across IHC and molecular methods in European clinical practice and has informed the integration of universal dMMR screening in colorectal cancer pathology workflows. He has also been a leader in liquid biopsy and ctDNA research, developing approaches for monitoring minimal residual disease and treatment response in gastrointestinal cancers.

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🧪Research Fields 研究领域

MSI-H/dMMR TestingMSI-H/dMMR检测
Mismatch Repair Deficiency错配修复缺陷
Colorectal Cancer Precision Medicine结直肠癌精准医疗
ctDNA and Liquid Biopsy循环肿瘤DNA与液体活检
Immunotherapy Biomarkers免疫治疗生物标志物

🎓Key Contributions 主要贡献

MSI-H/dMMR Testing Standardization in Europe

Led comparative studies of MSI PCR, IHC, and NGS methods in colorectal and gastric cancer, contributing evidence that formed the basis for European consensus guidelines on universal dMMR/MSI testing in colorectal cancer and pan-tumor dMMR screening to identify pembrolizumab-eligible patients.

POLE/POLD1 Mutations as Ultramutated Immunotherapy Biomarkers

Characterized POLE and POLD1 exonuclease domain mutations as a distinct hypermutation mechanism beyond MSI-H, demonstrating that POLE-mutant tumors with extreme TMB are highly responsive to checkpoint inhibition, establishing POLE mutation testing as a complementary biomarker to MSI-H.

ctDNA for dMMR Colorectal Cancer Monitoring

Developed and validated ctDNA-based liquid biopsy approaches for monitoring minimal residual disease and detecting emergent resistance to immunotherapy in dMMR colorectal cancer, informing adaptive treatment strategies.

Representative Works 代表性著作

[1]

Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade

Science (2017)

Co-authored landmark study demonstrating dMMR as a pan-tumor biomarker for pembrolizumab response across 12 cancer types, providing the scientific basis for the first tissue-agnostic FDA approval of pembrolizumab.

[2]

POLE and POLD1 mutations in endometrial and colorectal cancers

Nature Reviews Clinical Oncology (2021)

Comprehensive review defining POLE/POLD1 mutations as a distinct ultramutated biomarker category with high immunotherapy responsiveness, separate from and complementary to MSI-H/dMMR.

🏆Awards & Recognition 奖项与荣誉

🏆ESMO Translational Research Award
🏆Cancer Research UK Senior Cancer Research Fellowship
🏆Royal Marsden/ICR Excellence in Research Award

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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