Conxi Lázaro
康希·拉萨罗
PhD
Senior Researcher, Hereditary Cancer Program, Catalan Institute of Oncology加泰罗尼亚肿瘤研究所遗传性癌症项目高级研究员
👥Biography 个人简介
Leading Spanish hereditary cancer geneticist specializing in BRCA1/2 and MMR gene variant classification. She coordinates Spain's national BRCA database and contributes to ENIGMA consortium international standards for variant interpretation.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
BRCA Variant of Uncertain Significance Classification
Developed functional assays and bioinformatic pipelines for reclassifying BRCA1/2 variants of uncertain significance, directly impacting clinical management for thousands of Spanish and international patients.
ENIGMA International Consortium
Core contributor to the ENIGMA consortium, establishing international harmonized standards for BRCA variant classification through multifactorial likelihood models and functional evidence integration.
Representative Works 代表性著作
Functional analysis-based classification of BRCA2 variants of uncertain significance
Human Mutation (2016)
Presented a framework integrating functional assay data with epidemiological evidence to reclassify BRCA2 VUS in clinical settings.
Comprehensive description of BRCA1 and BRCA2 variants in Spain
Breast Cancer Research and Treatment (2018)
Catalogued BRCA1/2 pathogenic variant spectrum in Spanish hereditary breast/ovarian cancer families, identifying population-specific founder mutations.
🏆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
Related Experts 相关专家
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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
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