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Translational Medicine / 转化医学Milestone, BRCA1 Discovery Hereditary Breast Cancer

Mary-Claire King

PhD

🏢University of Washington🌐USA

Professor, Genome Sciences and Medicine

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👥Biography 个人简介

Mary-Claire King identified that hereditary breast and ovarian cancer is caused by mutations in a single dominant susceptibility gene mapped to chromosome 17q, which was subsequently cloned as BRCA1. This discovery, published in 1990 after 17 years of research, fundamentally changed how familial breast cancer is understood and translated directly into BRCA genetic testing, prophylactic surgery, and PARP inhibitor development. She also advocates for population-based BRCA screening for all women regardless of family history, and her work in forensic genetics has identified disappeared persons from human rights violations.

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🧪Research Fields 研究领域

BRCA1 gene discovery hereditary breast cancer
hereditary breast ovarian cancer genetics
BRCA1 chromosome 17q linkage
genetic testing cancer risk women
breast cancer inherited predisposition

🎓Key Contributions 主要贡献

Representative Works 代表性著作

📄Data Sources 数据来源

Last updated: 2026-04-01 | All information from publicly available academic sources

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