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Translational Medicine / 转化医学Global Oncology

Álvaro Monteiro

阿尔瓦罗·蒙泰罗

PhD

🏢Moffitt Cancer Center(莫菲特癌症中心)🌐Brazil

Senior Member & Program Leader, Cancer Epidemiology高级研究员兼癌症流行病学项目负责人

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Álvaro Monteiro is a Brazilian-born cancer geneticist and senior member at Moffitt Cancer Center. A world authority on BRCA1/2 variant classification and hereditary cancer in Latino populations, he leads the Moffitt Cancer Genetics Program and has characterized hundreds of BRCA variants of uncertain significance, directly impacting clinical genetic counseling globally.

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🧪Research Fields 研究领域

Cancer Genetics癌症遗传学
BRCA in Latinos拉丁裔BRCA研究
Hereditary Cancer遗传性癌症

🎓Key Contributions 主要贡献

BRCA Variant Classification

Developed and validated functional assays to classify hundreds of BRCA1/2 variants of uncertain significance (VUS), resolving clinical ambiguity for thousands of at-risk families worldwide.

Hereditary Cancer in Latino Populations

Led landmark studies characterizing the unique spectrum of BRCA1/2 and other hereditary cancer gene variants in Hispanic/Latino populations, enabling more accurate risk assessment in underrepresented groups.

Saturation Genome Editing for Variant Classification

Applied saturation genome editing (SGE) to BRCA1 at scale, generating functional scores for essentially all possible BRCA1 missense variants, a breakthrough for clinical variant interpretation.

Representative Works 代表性著作

[1]

Saturation genome editing of BRCA1 functionally classifies BRCA1 variants for clinical use

Nature (2018)

Landmark SGE study generating functional classifications for ~4,000 BRCA1 variants, fundamentally changing clinical interpretation of BRCA1 VUS worldwide.

[2]

BRCA1 and BRCA2 pathogenic variants and cancer risk among Hispanic/Latino individuals

JNCI: Journal of the National Cancer Institute (2021)

Large-scale sequencing study characterizing BRCA1/2 variant spectrum and cancer risk in Hispanic/Latino populations, with direct implications for genetic counseling.

[3]

Functional characterization of BRCA2 variants of uncertain significance: a systematic approach

American Journal of Human Genetics (2020)

Comprehensive functional classification of BRCA2 VUS using a validated homologous recombination assay, enabling reclassification of clinically actionable variants.

🏆Awards & Recognition 奖项与荣誉

🏆NCI Outstanding Investigator Award
🏆Moffitt Cancer Center Distinguished Researcher Award
🏆American Society of Human Genetics Natalie Weissberger Paul Award

📄Data Sources 数据来源

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

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