GENOMIC TESTING FOR
BREAST CANCER
Breast cancer genomic testing is more than a BRCA conversation. HER2 status, hormone receptors, PIK3CA mutations, somatic BRCA, and HER2-low status each have distinct treatment implications -- and they are separate tests.
Breast Cancer Testing Layers
| Test | What It Assesses | When Done | Treatment Implication |
|---|---|---|---|
| HER2 status (IHC + FISH) | HER2 overexpression/amplification; HER2-low category | Every diagnosis | Trastuzumab, pertuzumab, T-DXd, tucatinib; HER2-low now qualifies for T-DXd |
| Hormone receptor (ER/PR) | Oestrogen and progesterone receptor expression | Every diagnosis | Shapes entire endocrine therapy framework for receptor-positive disease |
| PIK3CA mutation | PI3K pathway mutation in HR+ breast cancer | Metastatic HR+/HER2- disease | Alpelisib plus fulvestrant approved for PIK3CA-mutated disease |
| Germline BRCA1/2 testing | Inherited mutation in every cell of body | At diagnosis (if criteria met) or when PARP inhibitor eligibility needed | Olaparib and talazoparib approved for germline BRCA-mutated HER2- metastatic disease |
| Somatic NGS (comprehensive) | All somatic mutations in tumour DNA | Metastatic diagnosis before first-line | PIK3CA, somatic BRCA, TMB, MSI, trial eligibility |
| Oncotype DX / MammaPrint | Gene expression risk scoring | Early-stage HR+/HER2- only | Predicts recurrence risk and chemotherapy benefit -- different question from somatic NGS |
Frequently Asked Questions
How CancerFax Helps
CancerFax is a specialist cancer access and patient-navigation platform. We help patients and families understand their options, organise medical records, coordinate hospital communication, and support cross-border treatment planning where appropriate.
We help collect and organise reports, scans, pathology, biomarker results, and treatment history for structured case review.
We communicate with hospitals or trial teams to assess whether a case may be suitable for further screening.
We support appointment coordination, document submission, translation, and direct communication with international departments.
For international patients, we help with practical coordination — travel planning, hospital admission guidance, and local support.
If this option is not suitable, we help explore other relevant treatments, clinical trials, or advanced care pathways.
From inquiry through to follow-up, our coordinators provide a single point of contact for the family.
CancerFax does not guarantee treatment access, eligibility, or clinical outcome. Our role is to help patients access accurate information, structured review, and appropriate specialist pathways.
Questions About Genomic Testing for Your Breast Cancer?
CancerFax reviews your breast cancer molecular workup and connects you with oncologists experienced in HER2, PIK3CA, BRCA, and comprehensive genomic-guided treatment.
This content is for informational purposes only and does not constitute medical advice. Always consult a qualified oncologist before making treatment decisions.