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Diana Eccles

戴安娜·埃克尔斯

MD, PhD, FRCP

🏢University of Southampton, Faculty of Medicine(南安普顿大学,医学院)🌐UK

Professor of Cancer Genetics; Director, Wessex Clinical Genetics Service癌症遗传学教授;威塞克斯临床遗传学服务主任

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Diana Eccles, MD, PhD, FRCP is Professor of Cancer Genetics at the University of Southampton and Director of the Wessex Clinical Genetics Service, and one of Europe's leading authorities on hereditary breast cancer, germline multi-gene panel testing, and the genetics of male breast cancer. She has made pivotal contributions to the understanding of BRCA1, BRCA2, PALB2, and other moderate-penetrance genes in familial breast cancer risk, and leads the Breast Cancer Now Familial Breast Cancer Research Programme. Professor Eccles is a recognized world expert on male breast cancer—a rare and understudied disease—having contributed to the largest genomic studies of male breast cancer to date through the EMBRACE study consortium and international male breast cancer consortia. Her work has demonstrated that male breast cancers harbor distinct genomic and clinical characteristics from female breast cancer, including a higher prevalence of BRCA2 mutations, and that treatment approaches developed predominantly for women may require modification for male patients. She co-developed the Mainstreaming Cancer Genetics Programme (MCG), which integrates germline BRCA testing into routine oncology care pathways outside traditional genetics clinics, dramatically expanding access to genetic testing across the NHS. Professor Eccles has published over 250 peer-reviewed articles, served as co-chief investigator for multiple UK research programmes, and is a prominent advocate for equitable access to genetic testing and prevention services in the UK and internationally.

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🧪Research Fields 研究领域

Hereditary Breast Cancer Genetics遗传性乳腺癌遗传学
BRCA1/2 Pathogenic VariantsBRCA1/2致病变异
Male Breast Cancer男性乳腺癌
Multi-Gene Panel Testing多基因面板检测
Genetic Risk Reduction遗传风险降低
Lynch Syndrome and Breast CancerLynch综合征与乳腺癌

🎓Key Contributions 主要贡献

Male Breast Cancer Genomics and Clinical Management

Led major genomic characterization studies of male breast cancer through EMBRACE and international consortia, defining the unique molecular features and elevated BRCA2 mutation prevalence in male breast cancer and providing evidence that guides genetic testing recommendations and treatment approaches for this understudied population.

Mainstreaming Cancer Genetics Programme

Co-developed the MCG Programme that integrates BRCA1/2 testing directly into oncology care pathways for ovarian and breast cancer patients, bypassing traditional genetics referral bottlenecks, dramatically increasing testing uptake across the NHS and providing a model adopted internationally.

Multi-Gene Panel Testing and Moderate-Penetrance Genes

Contributed landmark studies on PALB2, ATM, CHEK2, and other moderate-penetrance breast cancer susceptibility genes, defining population prevalence and relative risks and informing national and international consensus guidelines on panel testing clinical utility and risk management.

Representative Works 代表性著作

[1]

Male Breast Cancer: Incidence, Risk, Management and Survivorship

Nature Reviews Clinical Oncology (2020)

Comprehensive review summarizing epidemiology, germline genetics, tumor biology, and clinical management of male breast cancer, highlighting unique features including elevated BRCA2 prevalence and the need for male-specific clinical trial evidence and guidelines.

[2]

Germline PALB2 Mutations and the Risk of Breast Cancer

New England Journal of Medicine (2014)

Key contribution to the PALB2 interest group analysis establishing that PALB2 mutations confer a cumulative breast cancer risk of 35% by age 70 in the general population, significantly higher than previously estimated, supporting its inclusion in routine multi-gene panel testing and risk management protocols.

[3]

Mainstreaming Cancer Genetics: A Multidisciplinary Approach to BRCA1/2 Testing in Ovarian Cancer

Journal of Medical Genetics (2016)

Report demonstrating the feasibility and acceptability of oncologist-led germline BRCA testing in routine ovarian cancer care, with high uptake and equivalent psychological outcomes to traditional genetics-led testing, establishing the mainstreaming model adopted across the UK and internationally.

🏆Awards & Recognition 奖项与荣誉

🏆British Society of Genetic Medicine Baird Medal
🏆NIHR Senior Investigator Award
🏆European Journal of Human Genetics Best Paper Award
🏆Breast Cancer Now Lifetime Achievement Recognition

📄Data Sources 数据来源

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

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