ArticleAnnals of oncology : official journal of the European Society for Medical Oncology2023
Genomic characterisation of hormone receptor-positive breast cancer arising in very young women.
Article in Annals of oncology : official journal of the European Society for Medical Oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- The impact of menopausal status on the efficacy of adjuvant CDK4/6 inhibitors in hormone receptor-positive early breast cancer: a systematic review and meta-analysis of phase III clinical trials.Breast cancer research and treatment · 2026Pooled it
- Genomic Characterization and Prognostic Significance of Human Epidermal Growth Factor Receptor 2-Low, Hormone Receptor-Positive, Early Breast Cancers From the BIG 1-98 and SOFT Clinical Trials.JCO precision oncology · 2025Trial
- Age, Body Mass Index, Tumor Subtype, and Racial and Ethnic Disparities in Breast Cancer Survival.JAMA network open · 2023Trial
- Decoding age-stratified clinical and molecular heterogeneity in male breast cancer through multiomic profiling.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2026Article
- Breast Cancer: Epidemiology, Molecular Classification, Diagnostics and Evolving Treatment Paradigms.Molecules (Basel, Switzerland) · 2026Review
- Comparison of neoadjuvant TCbHP versus THP in HER2-positive breast cancer: a retrospective cohort study.Gland surgery · 2026Article
- Tailoring targeted therapies for younger women with ER-positive early-stage breast cancer.Nature reviews. Clinical oncology · 2026Review
- Age-related genomic characterization and therapeutic targets in Chinese breast cancer: insights from prospective targeted sequencing and clinical data analysis.BMC medicine · 2026Article
- RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer.NPJ breast cancer · 2026Article
- Tumor genomics in patients younger than 40 years of age with metastatic breast cancer.NPJ precision oncology · 2026Article
- The Complex Path from Mammary Ductal Hyperplasia to Breast Cancer: Elevated Malignancy Risk in Atypical Forms.Biomedicines · 2026Review
- A fusion-deletion genomic-event underlies poor prognosis in young patients with luminal breast cancer.PloS one · 2026Article
- Homologous recombination deficiency correlates with tumor-infiltrating lymphocytes and predicts patient outcomes in hormone receptor-positive/HER2-negative breast cancer.Therapeutic advances in medical oncology · 2026Article
- CDK4/6 inhibitors for premenopausal women with hormone receptor-positive/HER2-negative breast cancer; insight from Young-PEARL.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2026Article
- Next-generation sequencing in breast cancer: current clinical applications and future directions.Annals of medicine · 2025Review
- Proteogenomic characterization of invasive breast tumors in young women.NPJ breast cancer · 2025Article
- Long-Term Locoregional Outcomes in a Contemporary Cohort of Young Women With Breast Cancer.JAMA surgery · 2025Article
- Risk factors for early recurrence in patients with hormone receptor-positive, HER2-negative breast cancer: a retrospective cohort study in Japan (WJOG15721B).Breast cancer (Tokyo, Japan) · 2025Article
- Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment.Biomolecules · 2025Article
- Clinical-genomic characteristics of homologous recombination deficiency (HRD) in breast cancer: application model for practice.European journal of medical research · 2025Article
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Authors and funding
38 authors at 20 institutions in 11 countries.
Funding
Abstract
backgroundVery young premenopausal women diagnosed with hormone receptor-positive, human epidermal growth factor receptor 2-negative (HR+HER2-) early breast cancer (EBC) have higher rates of recurrence and death for reasons that remain largely unexplained. PATIENTS AND
methodsGenomic sequencing was applied to HR+HER2- tumours from patients enrolled in the Suppression of Ovarian Function Trial (SOFT) to determine genomic drivers that are enriched in young premenopausal women. Genomic alterations were characterised using next-generation sequencing from a subset of 1276 patients (deep targeted sequencing, n = 1258; whole-exome sequencing in a young-age, case-control subsample, n = 82). We defined copy number (CN) subgroups and assessed for features suggestive of homologous recombination deficiency (HRD). Genomic alteration frequencies were compared between young premenopausal women (<40 years) and older premenopausal women (≥40 years), and assessed for associations with distant recurrence-free interval (DRFI) and overall survival (OS).
resultsYounger women (<40 years, n = 359) compared with older women (≥40 years, n = 917) had significantly higher frequencies of mutations in GATA3 (19% versus 16%) and CN amplifications (CNAs) (47% versus 26%), but significantly lower frequencies of mutations in PIK3CA (32% versus 47%), CDH1 (3% versus 9%), and MAP3K1 (7% versus 12%). Additionally, they had significantly higher frequencies of features suggestive of HRD (27% versus 21%) and a higher proportion of PIK3CA mutations with concurrent CNAs (23% versus 11%). Genomic features suggestive of HRD, PIK3CA mutations with CNAs, and CNAs were associated with significantly worse DRFI and OS compared with those without these features. These poor prognostic features were enriched in younger patients: present in 72% of patients aged <35 years, 54% aged 35-39 years, and 40% aged ≥40 years. Poor prognostic features [n = 584 (46%)] versus none [n = 692 (54%)] had an 8-year DRFI of 84% versus 94% and OS of 88% versus 96%. Younger women (<40 years) had the poorest outcomes: 8-year DRFI 74% versus 85% and OS 80% versus 93%, respectively.
conclusionThese results provide insights into genomic alterations that are enriched in young women with HR+HER2- EBC, provide rationale for genomic subgrouping, and highlight priority molecular targets for future clinical trials.
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