Mary-Claire King
玛丽-克莱尔·金
PhD
American Cancer Society Professor, Departments of Medicine and Genome Sciences美国癌症学会教授，医学系与基因组科学系
👥Biography 个人简介
Mary-Claire King is the geneticist who proved in 1990, after a 17-year search, that hereditary breast cancer is caused by mutations in a single gene on chromosome 17q — subsequently cloned by others and named BRCA1. Her statistical genetics approach demonstrated Mendelian inheritance of breast cancer susceptibility in high-risk families, transforming clinical understanding of hereditary cancer risk and enabling the identification of millions of women at elevated risk worldwide. King has also pioneered forensic DNA identification of victims of human rights abuses and continues to work on genome-wide sequencing for hereditary cancer risk.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
BRCA1 Locus Discovery
After 17 years of research, mapped hereditary breast-ovarian cancer susceptibility to a single locus on chromosome 17q21 — the region later cloned as BRCA1 — using statistical genetics and linkage analysis.
Hereditary Breast Cancer Paradigm
Established that a significant subset of breast cancer follows Mendelian inheritance patterns, fundamentally changing clinical risk assessment and enabling prophylactic surgical and screening interventions.
Population Genetics of Cancer Risk
Demonstrated that BRCA1/2 population carrier frequency justifies universal screening, advocating successfully for all women to have access to hereditary cancer genetic testing.
Forensic Genetics and Human Rights
Pioneered use of mitochondrial DNA and short tandem repeat analysis for identification of victims of human rights violations in Argentina and elsewhere, demonstrating the broad humanitarian applications of human genetics.
Representative Works 代表性著作
Genetic Linkage of Female Breast Cancer to the Chromosomal Region 17q21
Science (1990)
Landmark discovery mapping hereditary breast cancer susceptibility to chromosome 17q21, establishing the existence of BRCA1 and transforming hereditary cancer medicine.
Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
Science (2003)
Definitive population-based estimate of lifetime cancer risk from BRCA1/2 mutations, informing clinical guidelines for hereditary cancer management.
🏆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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