David Malkin
大卫·马尔金
MD, FRCPC
Senior Scientist, Genetics & Genome Biology, SickKids Research Institute; Professor and Director, Cancer Genetics Program, University of Toronto多伦多儿童医院遗传与基因组生物学高级研究员，多伦多大学癌症遗传学项目主任
👥Biography 个人简介
David Malkin, MD, FRCPC is Senior Scientist at SickKids Research Institute and Director of the Cancer Genetics Program at the University of Toronto, recognized internationally as the world authority on Li-Fraumeni syndrome (LFS) and pediatric cancer predisposition. In 1990, as a postdoctoral fellow, he co-discovered germline TP53 mutations as the molecular basis of LFS—a landmark finding that redefined hereditary cancer genetics and demonstrated tumor suppressor gene mutation as an inherited disease mechanism. He has since dedicated his career to understanding the full clinical spectrum of LFS, developing evidence-based surveillance protocols that enable early cancer detection in mutation carriers, and characterizing the biological mechanisms by which mutant p53 drives childhood tumors including adrenocortical carcinoma, choroid plexus carcinoma, and osteosarcoma. His work established screening programs that have saved many lives of children in LFS families.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
Discovery of Germline TP53 Mutations in Li-Fraumeni Syndrome
Co-discovered in 1990 that germline mutations in TP53 are the cause of Li-Fraumeni syndrome, a hereditary cancer predisposition condition affecting children and young adults. This was among the first demonstrations of inherited tumor suppressor gene mutation as a cause of a human cancer syndrome.
Li-Fraumeni Syndrome Surveillance Protocol Development
Developed and validated the Toronto and subsequently the NCCN LFS surveillance protocols using annual whole-body MRI, which demonstrated that intensive surveillance detects cancers at earlier stages and confers significant survival benefit compared to symptomatic diagnosis.
TP53 R337H and Pediatric Adrenocortical Carcinoma in Brazil
Characterized the TP53 R337H founder mutation prevalent in southern Brazil as a cause of an epidemic of pediatric adrenocortical carcinoma, enabling population-level genetic screening and early intervention programs that have dramatically reduced mortality in affected communities.
Mutant p53 Gain-of-Function Mechanisms in Childhood Cancer
Elucidated mechanisms by which specific TP53 gain-of-function mutations drive pediatric tumor biology beyond simple loss of wild-type p53 activity, identifying new therapeutic vulnerabilities in LFS-associated tumors.
Representative Works 代表性著作
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
Science (1990)
Landmark co-discovery paper identifying germline TP53 mutations in five Li-Fraumeni syndrome families, establishing the molecular basis of this hereditary cancer predisposition syndrome.
Surveillance for cancer predisposition in patients with Li-Fraumeni syndrome: a systematic review and implementation guide
Clinical Cancer Research (2022)
Evidence-based synthesis supporting annual whole-body MRI surveillance in LFS patients, documenting improved early detection rates and overall survival in monitored cohorts.
The genetics of cancer in children
New England Journal of Medicine (2014)
Comprehensive review of the expanding landscape of cancer predisposition syndromes in childhood, covering TP53, BRCA pathways, RASopathies, and implications for clinical management.
🏆Awards & Recognition 奖项与荣誉
📄Data Sources 数据来源
Last updated: 2026-04-06 | All information from publicly available academic sources
Related Experts 相关专家
Antoni Ribas
UCLA Jonsson Comprehensive Cancer Center
Drew M. Pardoll
Johns Hopkins University
Padmanee Sharma
MD Anderson Cancer Center
Naiyer A. Rizvi
Columbia University Irving Medical Center
关注 大卫·马尔金 的研究动态
Follow David Malkin's research updates
留下邮箱，当我们发布与 David Malkin（Hospital for Sick Children (SickKids) / University of Toronto）相关的新研究或访谈时，我们会通知你。
Explore More Experts
Discover the researchers shaping the future of cancer treatment