Breast diseases

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Breast cancer biomarkers and genomic tests

Asia

• Advances in Therapy
  • Addressing the Challenges in the Identification of HER2-Low and Ultralow Breast Cancer in Asia: A Delphi Consensus [2026]

Brazil

• BMC Health Services Research
  • Cost-Effectiveness analysis of the 21-Gene platform for guiding treatment decisions for early Hormone-Positive breast cancer: the perspective of the Brazilian public health system [2025]

• Revista da Associação Médica Brasileira
  • Challenges in the evaluation of HER2 and HER2-low in breast cancer in Brazil and recommendations of a multidisciplinary working group [2024]

Canada

• Canada's Drug Agency
  • Oncotype DX in Women and Men with ER-Positive, HER2-Negative Early Stage Breast Cancer who are Lymph Node Negative: A Review of Clinical Effectiveness and Guidelines [2014]
  • Oncotype DX in Women and Men with ER-Positive HER2-Negative Early Stage Breast Cancer Who are Lymph Node-Positive: A Review of Clinical Effectiveness and Guidelines [2014]

• Canadian Association of Pathologists
  • Ki67 in Breast Cancer Assay: An Ad Hoc Testing Recommendation from the Canadian Association of Pathologists Task Force [2023]

• Current Oncology
  • Testing for her2 in breast cancer: current pathology challenges faced in Canada [2012]

• Ontario Health
  • Clinical Utility of Multigene Profiling Assays in Early-Stage Invasive Breast Cancer: An Ontario Health (Cancer Care Ontario) Clinical Practice Guideline [2022]
  • Gene Expression Profiling Tests for Early-Stage Invasive Breast Cancer: A Health Technology Assessment [2020]

China

• Breast Cancer Research
  • Challenges and improvements in HER2 scoring and histologic evaluation: insights from a national proficiency testing scheme for breast cancer diagnosis in China [2024]

• Chinese Medical Journal
  • Clinical practice guidelines for multigene assays in patients with early-stage breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guidelines 2021 [2021]

• Scientific Reports
  • Current evidence on circRNAs as potential theranostic markers for detecting chemoresistance in breast cancer: a systematic review and meta-analysis [2022]
  • Impact of the 2018 ASCO/CAP guidelines on HER2 fluorescence in situ hybridization interpretation in invasive breast cancers with immunohistochemically equivocal results [2019]

Denmark

• Breast Cancer Research
  • High inter-laboratory variability in the assessment of HER2-low breast cancer: a national registry study on 50,714 Danish patients [2023]

Europe

• European Commission
  • Recommendations from the European Commission Initiative on Breast Cancer for multigene testing to guide the use of adjuvant chemotherapy in patients with early breast cancer, hormone receptor positive, HER-2 negative [2021]

• European Journal of Cancer
  • Clinical use of biomarkers in breast cancer: Updated guidelines from the European Group on Tumor Markers (EGTM) [2017]

• Future Oncology
  • Genomic tests to guide management of breast cancer in Europe: regulation, reimbursement, adoption, and challenges [2025]

France

• PLoS ONE
  • Prospective, multicenter French study evaluating the clinical impact of the Breast Cancer Intrinsic Subtype-Prosigna® Test in the management of early-stage breast cancers [2017]

Germany

• Institute for Quality and Efficiency in Health Care
  • Biomarker-based tests for the decision for or against adjuvant systemic chemotherapy in primary breast cancer [2016]

India

• Archives of Pathology & Laboratory Medicine
  • External Quality Assurance Helps Improve Infrastructure for Testing Breast Biomarkers Across a Lower- and Middle-Income Country: Our Experience With Breast Biomarker Testing in the National Cancer Grid External Quality Assurance System in India [2024]

• Indian Journal of Medical Research
  • Challenges & recommendations for identification of human epidermal growth factor receptor -2 (HER2)-low metastatic breast cancer in India: Expert opinion statement [2025]
  • Improving accuracy of breast cancer biomarker testing in India [2017]

• South Asian Journal of Cancer
  • Practical consensus recommendations on management of HR + ve early breast cancer with specific reference to genomic profiling [2018]

International

• Biosensors
  • Innovative Methodologies for the Early Detection of Breast Cancer: A Review Categorized by Target Biological Samples [2025]

• BMC Cancer
  • Scoping review: (Bio)markers for the prognostication of breast cancer recurrence [2025]

• Breast Cancer Research
  • A systematic review of candidate genes and their relevant pathways for metastasis among adults diagnosed with breast cancer [2024]

• Cancer
  • Use of standard markers and incorporation of molecular markers into breast cancer therapy [2011]

• Cancer Treatment and Research Communications
  • Circulating tumor DNA for breast cancer: Review of active clinical trials [2022]

• Critical Reviews in Oncology/Hematology
  • Role of machine learning in molecular pathology for breast cancer: A review on gene expression profiling and RNA sequencing application [2025]
  • Gene expression signatures in older patients with breast cancer: A systematic review [2023]

• International Journal of Molecular Sciences
  • The Prognostic Power of miR-21 in Breast Cancer: A Systematic Review and Meta-Analysis [2025]
  • Assessing the Role of MicroRNAs in Predicting Breast Cancer Recurrence-A Systematic Review [2023]

• International Ki67 in Breast Cancer Working Group
  • Systematically higher Ki67 scores on core biopsy samples compared to corresponding resection specimen in breast cancer: a multi-operator and multi-institutional study [2022]
  • Ki67 as a Companion Diagnostic: Good or Bad News? [2022]
  • Assessment of Ki67 in Breast Cancer: Updated Recommendations From the International Ki67 in Breast Cancer Working Group [2021]

• Journal of Cancer Research and Clinical Oncology
  • The assessment of breast cancer biomarkers in diagnosis, prognosis and treatment monitoring: integrated analysis [2025]

• Modern Pathology
  • International Expert Consensus Recommendations for HER2 Reporting in Breast Cancer: Focus on HER2-Low and Ultralow Categories [2026]

• Seminars in Cancer Biology
  • Update on tumor-infiltrating lymphocytes (TILs) in breast cancer, including recommendations to assess TILs in residual disease after neoadjuvant therapy and in carcinoma in situ: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer - ScienceDirect [2017]

Iran

• Journal of Cancer Research and Clinical Oncology
  • Molecular signatures of breast cancer in the Iranian population: a review of cell growth and cell cycle regulators [2025]

Ireland

• Health Information and Quality Authority
  • A rapid HTA of gene expression profiling tests for guiding the use of adjuvant chemotherapy in early-stage invasive breast cancer [2024]

Italy

• Breast
  • Integrating PIK3CA Testing into Clinical Practice for Advanced HR+/HER2- Breast Cancer: An Expert Consensus [2026]

• Cancers
  • Definition of High-Risk Early Hormone-Positive HER2-Negative Breast Cancer: A Consensus Review [2022]

• Oncotarget
  • Multigene tests for breast cancer: the physician’s perspective [2021]

Japan

• Genes
  • Significance of Multi-Cancer Genome Profiling Testing for Breast Cancer: A Retrospective Analysis of 3326 Cases from Japan's National Database [2024]

Latin America

• JCO Global Oncology
  • Practice-Changing Use of the 21-Gene Test for the Management of Patients With Early-Stage Breast Cancer in Latin America [2021]

• PLoS ONE
  • HER2-low prevalence among Hispanic/Latino women with breast cancer: A systematic review and meta-analysis [2024]

Malaysia

• Malaysian Journal of Pathology
  • Guidelines for HER2 reporting in breast cancer: Recommendations by the Malaysian Breast Pathology Working Group [2025]

Middle East, North Africa

• Oncologist
  • Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review [2025]

Norway

• Clinical Breast Cancer
  • Cost-effectiveness of Prosigna for Adjuvant Treatment Decisions in Early Breast Cancer: Healthcare Sector and Societal Perspectives [2025]

• ESMO Open
  • Impact of Prosigna test on adjuvant treatment decision in lymph node-negative early breast cancer-a prospective national multicentre study (EMIT-1) [2024]

Portugal

• Clinical Breast Cancer
  • The Use and Impact on Treatment Decision of the 21-Gene Recurrence Score Assay for Patients With HR+/HER2- Early Breast Cancer in Portugal: A Nationwide Retrospective Cohort Study [2026]

Republic of Korea

• Breast
  • Body mass index and progesterone receptor in postmenopausal ER-positive/HER2-negative breast cancer: A nation-wide study in Korean breast cancer society and the multi-institutional cohort [2025]

• Breast Cancer Research
  • Clinical significance of HER2-low expression in early breast cancer: a nationwide study from the Korean Breast Cancer Society [2022]

• Journal of Breast Cancer
  • Impact of the Updated Guidelines on Human Epidermal Growth Factor Receptor 2 (HER2) Testing in Breast Cancer [2020]

Rwanda

• Bulletin of the World Health Organization
  • Breast cancer molecular diagnostics in Rwanda: a cost-minimization study of immunohistochemistry versus a novel GeneXpert® mRNA expression assay [2023]

Singapore

• Singapore Medical Journal
  • Concordance between core needle biopsy and surgical specimen for ER, PgR and Her2neu receptor status in breast cancer and study of difference in reliability between the two groups with the change in ASCO/CAP guidelines [2016]

Spain

• Sociedad Española de Oncología Médica
  • Biomarkers in breast cancer 2024: an updated consensus statement by the Spanish Society of Medical Oncology and the Spanish Society of Pathology [2024]
  • Consensus of the Spanish society of laboratory medicine and the Spanish society of medical oncology on the methodology and criteria for evaluation of circulating tumour markers in breast cancer [2021]
  • Biomarkers in breast cancer: A consensus statement by the Spanish Society of Medical Oncology and the Spanish Society of Pathology [2018]

Sweden

• Breast
  • Optimization of guidelines for Risk Of Recurrence/Prosigna testing using a machine learning model: a Swedish multicenter study [2025]

• Cancers
  • Variability in Breast Cancer Biomarker Assessment and the Effect on Oncological Treatment Decisions: A Nationwide 5-Year Population-Based Study [2021]

Switzerland

• PLoS ONE
  • Impact of Modified 2013 ASCO/CAP Guidelines on HER2 Testing in Breast Cancer. One Year Experience [2015]

United Kingdom

• Breast Cancer Research and Treatment
  • The impact of Oncotype DX breast cancer assay results on clinical practice: a UK experience [2020]

• British Journal of Cancer
  • Distinct temporal trends in breast cancer incidence from 1997 to 2016 by molecular subtypes: a population-based study of Scottish cancer registry data [2020]

• Health Technology Assessment
  • Tumour profiling tests to guide adjuvant chemotherapy decisions in lymph node-positive early breast cancer: a systematic review and economic evaluation [2025]
  • Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer: a systematic review and economic analysis [2019]

• Journal of Clinical Pathology
  • Updated UK Recommendations for HER2 assessment in breast cancer [2015]

• National Institute for Health and Care Excellence
  • Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer [2024]
  • Magseed for locating impalpable breast cancer lesions [2020]
  • MammaTyper in vitro diagnostic test for determining breast cancer subtypes [2018]

United States

• American Society of Clinical Oncology
  • Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: ASCO-College of American Pathologists Guideline Update [2023]
  • Biomarkers for Systemic Therapy in Metastatic Breast Cancer: ASCO Guideline Update Q and A [2022]
  • Biomarkers for Systemic Therapy in Metastatic Breast Cancer: ASCO Guideline Update [2022]
  • Biomarkers for Adjuvant Endocrine and Chemotherapy in Early-Stage Breast Cancer: ASCO Guideline Update Q and A [2022]
  • Biomarkers for Adjuvant Endocrine and Chemotherapy in Early-Stage Breast Cancer: ASCO Guideline Update [2022]
  • Estrogen and Progesterone Receptor Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Guideline Update [2020]
  • Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: ASCO Clinical Practice Guideline Update—Integration of Results From TAILORx [2019]
  • Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Focused Update [2018]
  • Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline Focused Update [2017]
  • Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline [2016]
  • Use of Biomarkers to Guide Decisions on Systemic Therapy for Women With Metastatic Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline [2015]
  • Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update [2014]

• Annals of Surgical Oncology
  • The 21-Gene Recurrence Score in Clinically High-Risk Lobular and Ductal Breast Cancer: A National Cancer Database Study [2022]

• Breast Cancer Research and Treatment
  • Utilization and impact of 21-gene recurrence score assay for breast cancer in clinical practice across the United States: lessons learned from the 2010 to 2012 National Cancer Data Base analysis [2016]

• Cancer
  • Adjuvant chemotherapy in patients with invasive lobular carcinoma and use of the 21-gene recurrence score: A National Cancer Database analysis [2022]

• Cancer Medicine
  • Surgeon and medical oncologist peer network effects on the uptake of the 21-gene breast cancer recurrence score assay [2021]

• Clinical Breast Cancer
  • Circulating Biomarkers in Breast Cancer [2022]

• College of American Pathologists
  • The Cancer Immunotherapy Biomarker Testing Landscape [2020]
  • Quantitative Image Analysis of Human Epidermal Growth Factor Receptor 2 Immunohistochemistry for Breast Cancer: Guideline From the College of American Pathologists [2019]

• Current Oncology
  • Oncotype DX Recurrence Score Predicts Survival in Invasive Micropapillary Breast Carcinoma: A National Cancer Database Analysis [2025]

• Genetics in Medicine
  • Recommendations from the EGAPP Working Group: does the use of Oncotype DX tumor gene expression profiling to guide treatment decisions improve outcomes in patients with breast cancer? [2016]

• JAMA Network Open
  • Incidence Trends of Breast Cancer Molecular Subtypes by Age and Race/Ethnicity in the US From 2010 to 2016 [2020]

• npj Breast Cancer
  • The incidence of discordant clinical and genomic risk in patients with invasive lobular or ductal carcinoma of the breast: a National Cancer Database Study [2021]

{Related topics}

• Topic
  • Breast cancer
  • Breast biopsy, breast pathology