Risk Evaluation & Biomarker Testing

Consensus StatementQuality of EvidenceStrength of Rec.Key Ref
1. For PIK3CA gene, both somatic tissue and liquid biopsy testing can be used for determining mutation status.IA1-3
2. Mutations in somatic PIK3CA/AKT1/PTEN, ESR1, and germline pathogenic BRCA1/2 mutations are associated with improved treatment outcome to relevant targeted therapies.IA1-5
3. In HR(+) mBC with HER2-low (IHC 1+ or IHC 2+/ISH-), HER2-ultralow (IHC 0 with membrane staining) is predictive of trastuzumab deruxtecan treatment efficacy.IA6-7
4. ESR1 mutation, determined by circulating tumor DNA has both predictive and prognostic indicator values.IA4,5,8
5. Determination of TROP2 expression status is not required for decision of TROP2 antibody drug conjugates use (such as sacituzumab govitecan, datopotamab deruxtecan).IIB8
6. There is data to support replacing AI with a SERD (e.g. camizestrant) in combination to first line CDK4/6 inhibitor use upon emergence of mutant ESR1 ctDNA before clinical progression #IA9
7. Biopsy of metastatic sites may be considered for guiding treatment options if no risk of major complications.IIA10

# testing for ESR1 ctDNA started at least 6 months after initiation of CDK4/6 inhibitors plus aromatase inhibitors

References

  1. André F, et al. Alpelisib for PIK3CA-Mutated, Hormone Receptor-Positive Advanced Breast Cancer. N Engl J Med. 2019.
  2. Oliveira M, et al. Capivasertib and fulvestrant for patients with hormone receptor-positive, HER2-negative advanced breast cancer (CAPItello-291). Lancet Oncol. 2024.
  3. Jhaveri KL, et al. Overall Survival with Inavolisib in PIK3CA-Mutated Advanced Breast Cancer. N Engl J Med. 2025.
  4. Bidard FC, et al. Elacestrant… Versus Standard Endocrine Therapy… EMERALD Trial. J Clin Oncol. 2022.
  5. Campone M, et al. Vepdegestrant, a PROTAC Estrogen Receptor Degrader, in Advanced Breast Cancer. N Engl J Med. 2025.
  6. Bardia A, et al. Trastuzumab Deruxtecan after Endocrine Therapy in Metastatic Breast Cancer. N Engl J Med. 2024.
  7. Modi S, et al. Trastuzumab Deruxtecan in Previously Treated HER2-Low Advanced Breast Cancer. N Engl J Med. 2022.
  8. Bardia A, et al. Datopotamab Deruxtecan Versus Chemotherapy… TROPION-Breast01. J Clin Oncol. 2025.
  9. Bidard FC, et al. First-Line Camizestrant for Emerging ESR1-Mutated Advanced Breast Cancer. N Engl J Med. 2025.
  10. S.A. Im et al. Pan-Asian adapted ESMO Clinical Practice Guidelines… ESMO Open 2023.