| Biomarker | CA15-3 | Full name | Cancer antigen 15-3 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Monitoring, prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | All subtypes | ||
| Organ | Breast | Test Sample / Technology Platform | Serum (Enzyme-Linked Immunosorbent Assay ELISA, Chemiluminescence Immunoassay CLIA) | ||
| Pathobiological Mechanisms | CA15-3 is a glycoprotein associated with breast cancer. Abnormal secretion by tumor cells leads to an increase in serum levels, which is related to tumor burden and metastasis. | ||||
| Clinical Availability Status | Clinical auxiliary (recurrence monitoring): Used for monitoring recurrence in patients with advanced conditions after treatment, with relatively low specificity (approximately 80%), and not for early diagnosis. | ||||
| Notes and Dynamics | The value of individual detection is limited. It is often used in combination with CEA for dynamic monitoring of patients with a higher risk of recurrence. | ||||
| Biomarker | RASSF1A | Full name | Ras association domain family 1 isoform A | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | All subtypes | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissue / Serum (Methylated Specific PCR MS-PCR, NGS) | ||
| Pathobiological Mechanisms | RASSF1A is a tumor suppressor gene. The methylation of its promoter leads to gene silencing, resulting in the loss of its inhibitory effect on cell proliferation, and is associated with the occurrence and metastasis of breast cancer. | ||||
| Clinical Availability Status | Research verification: Methylization detection shows potential in the early diagnosis and prognosis assessment of triple-negative breast cancer, but has not yet been widely applied in clinical practice. | ||||
| Notes and Dynamics | The methylation of RASSF1A can serve as a biomarker for liquid biopsy, used for early screening and recurrence monitoring. Relevant validation studies are currently underway. | ||||
| Biomarker | TP53 | Full name | Tumor protein p53 | Molecular Type | Protein / Nucleic acid（DNA/RNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissues (IHC: protein expression; NGS: gene mutations) | ||
| Pathobiological Mechanisms | TP53 is a tumor suppressor gene. When it mutates, it loses its functions of regulating the cell cycle and inducing apoptosis, leading to an increase in the malignancy of tumor cells and resistance to chemotherapy. | ||||
| Clinical Availability Status | Research verification / Clinical reference: TP53 mutations are associated with poor prognosis in breast cancer and can be used as a predictor of chemotherapy sensitivity. | ||||
| Notes and Dynamics | TP53-targeted drugs (such as PRIMA-1MET) are currently in the clinical trial stage for advanced breast cancer with TP53 mutations. | ||||
| Biomarker | BRCA1/2 | Full name | Breast cancer susceptibility gene 1/2 | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | All subtypes | ||
| Pathobiological Mechanisms | BRCA1/2 are key genes involved in DNA double-strand break repair. Mutations in these genes lead to defects in DNA repair function, making tumors sensitive to DNA-damaging drugs (such as platinum compounds, PARP inhibitors). | ||||
| Clinical Availability Status | Clinical application (risk assessment + treatment guidance): Germline mutation testing is used for genetic risk assessment; somatic mutations guide PARP inhibitor therapy. | ||||
| Notes and Dynamics | PARP inhibitors (such as olaparib, talazoparib) have been approved for the treatment of advanced triple-negative breast cancer with BRCA1/2 mutations; liquid biopsy (ctDNA) can dynamically monitor the status of BRCA1/2 mutations. | ||||
| Biomarker | FGFR | Full name | Fibroblast growth factor receptor | Molecular Type | Protein / Nucleic acid |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissue / ctDNA (NGS, FISH) | ||
| Pathobiological Mechanisms | FGFR gene amplification or mutation activates downstream signaling pathways, which can lead to HER2 treatment resistance, promote tumor angiogenesis and metastasis. | ||||
| Clinical Availability Status | Research validation / clinical trial: FGFR inhibitors (such as erdafitinib) are in Phase II/III clinical trials for advanced breast cancer with FGFR amplification / mutation. | ||||
| Notes and Dynamics | The combined inhibition of FGFR and HER2 can overcome some HER2 resistance. Relevant combined drug trial is currently underway. | ||||
| Biomarker | HER2 | Full name | Human epidermal growth factor receptor 2 | Molecular Type | Protein / Nucleic acid |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissues (IHC, fluorescence in situ hybridization FISH, chromogenic in situ hybridization CISH); ctDNA (NGS) | ||
| Pathobiological Mechanisms | HER2 gene amplification or protein overexpression leads to continuous activation of the receptor, activating downstream RAS-MAPK and PI3K-AKT pathways, which drives rapid tumor proliferation. | ||||
| Clinical Availability Status | Clinical routine (recommended by guidelines): IHC + FISH/CISH is the gold standard for HER2 testing, guiding anti-HER2 treatment (trastuzumab, pertuzumab, ADC drugs) | ||||
| Notes and Dynamics | The new HER2 ADC drugs (such as DS-8201, T-DM1) are effective for patients with low HER2 expression or resistance; HER2 mutation testing (such as S310F) expands the treatment population. | ||||
| Biomarker | PIK3CA | Full name | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Molecular Type | Nucleic acid |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissue / ctDNA (NGS, dPCR) | ||
| Pathobiological Mechanisms | The PIK3CA mutation activates the PI3K-AKT-mTOR signaling pathway, promoting cell proliferation and inhibiting apoptosis, and is associated with resistance to endocrine therapy. | ||||
| Clinical Availability Status | Clinical application (targeted therapy guidance): For advanced patients with PIK3CA mutations, PI3K inhibitors (such as aprepitant) can be used in combination with endocrine therapy. | ||||
| Notes and Dynamics | The combination therapy of PI3K inhibitors and immune checkpoint inhibitors is currently in the clinical trial stage for patients with PIK3CA mutations. | ||||
| Biomarker | ESR1 | Full name | Estrogen receptor 1 | Molecular Type | Nucleic acid |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | Hormone receptor-positive | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor / circulating DNA (ctDNA) (Next Generation Sequencing) | ||
| Pathobiological Mechanisms | ESR1 gene mutations (such as Y537S, D538G) can cause continuous activation of ER, independent of estrogen, and are an important cause of resistance to endocrine therapy. | ||||
| Clinical Availability Status | Clinical validation / Partial application: The detection of ESR1 mutations using ctDNA has been applied in the treatment decisions for patients with late endocrine resistance. | ||||
| Notes and Dynamics | ESR1 mutation detection is being extended to early-stage patients to explore risk stratification for drug resistance; liquid biopsy (ctDNA) can dynamically monitor the mutation status. | ||||
| Biomarker | PR | Full name | Progesterone receptor | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissue (IHC, IF) | ||
| Pathobiological Mechanisms | The expression of PR is regulated by ER. Its presence indicates that the ER signaling pathway is intact and can enhance the sensitivity to endocrine therapy. | ||||
| Clinical Availability Status | Clinical routine (recommended by guidelines): When combined with ER testing, PR-positive patients have a clearer benefit from endocrine therapy. | ||||
| Notes and Dynamics | Some patients experienced PR loss during the treatment process, which was related to endocrine resistance. Dynamic monitoring is necessary. | ||||
| Biomarker | ER | Full name | Estrogen receptor | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | Tumor tissue (IHC, immunofluorescence IF) | ||
| Pathobiological Mechanisms | When ER binds to estrogen, it activates downstream signaling pathways and promotes abnormal proliferation of breast epithelial cells. This is the core driving mechanism of hormone receptor-positive breast cancer. | ||||
| Clinical Availability Status | Clinical routine (recommended by guidelines): IHC testing is the gold standard for breast cancer classification, guiding the selection of endocrine therapy (such as tamoxifen, aromatase inhibitors). | ||||
| Notes and Dynamics | Patients with low expression of ER have a lower response rate to endocrine therapy. The new SERD (selective estrogen receptor degrader) is effective for some patients who are resistant to treatment. | ||||
| Biomarker | FOLR1 | Full name | Folate receptor 1 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Tumor tissue / Serum (IHC, ELISA, PET-CT imaging) | ||
| Pathobiological Mechanisms | It mediates the uptake of folic acid, meeting the metabolic demands for the rapid proliferation of ovarian cancer cells, and is highly specifically expressed in ovarian cancer tissues. | ||||
| Clinical Availability Status | Clinical translation / Companion diagnostics for targeted therapy: IHC for patient screening, and in the clinical application of targeted drugs. | ||||
| Notes and Dynamics | FOLR1-targeted ADCs (such as Mirvetuximab Soravtansine) have been approved for the treatment of platinum-resistant ovarian cancer; PET-CT imaging can achieve the integration of tumor localization and efficacy assessment. | ||||
| Biomarker | MSLN | Full name | Mesothelin | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum / Tumor Tissue (ELISA, IHC, Flow Cytometry) | ||
| Pathobiological Mechanisms | It mediates the adhesion between tumor cells and stromal cells, promoting tumor invasion and metastasis. The positive expression rate in ovarian cancer tissues is 70% - 80%. | ||||
| Clinical Availability Status | In the process of research verification / clinical translation: IHC is used for tissue detection, while serum testing is in the stage of large-scale validation. | ||||
| Notes and Dynamics | The supplementary diagnostic sensitivity for CA125-negative ovarian cancer is 65%; as an immunotherapy target, the MSLN-targeted antibody-drug conjugate (ADC) has entered phase II clinical trials. | ||||
| Biomarker | RASSF1A | Full name | Ras association domain family 1 isoform A | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (circulating free DNA) / Tumor tissue (methylated specific PCR, NGS) | ||
| Pathobiological Mechanisms | It is a tumor suppressor gene. The methylation of the promoter leads to the silencing of expression, resulting in the loss of cell cycle regulation and apoptosis induction functions, thereby promoting the occurrence and development of ovarian cancer. | ||||
| Clinical Availability Status | Research validation / Early clinical: A large-scale cohort study was conducted to verify its early diagnostic value, but it has not yet been widely adopted. | ||||
| Notes and Dynamics | Ovarian cancer can exhibit abnormal methylation even at an early stage. Combined with HE4 testing, the diagnostic sensitivity for stage I can be increased to 76%. It is a core candidate for epigenetic biomarkers in liquid biopsy. | ||||
| Biomarker | BRCA1/2 | Full name | Breast cancer susceptibility gene 1/2 | Molecular Type | Nucleic acid（DNA |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Whole blood / Peripheral blood mononuclear cells (NGS, Sanger sequencing, MLPA) | ||
| Pathobiological Mechanisms | Participating in the homologous recombination repair (HR) pathway, mutations lead to genomic instability (HRD), increasing the risk of ovarian cancer, and are sensitive to PARP inhibitors. | ||||
| Clinical Availability Status | Clinically applicable (routine genetic testing): Included as a mandatory test for newly diagnosed ovarian cancer patients, serving as a companion diagnostic for PARP inhibitors. | ||||
| Notes and Dynamics | HRD positive patients who received maintenance treatment with PARP inhibitors showed a significant prolongation in progression-free survival; it is a core biomarker for genetic counseling and family risk screening. | ||||
| Biomarker | HE4 | Full name | Human epididymis protein 4 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (combined detection using ELISA, CLIA, and ROMA algorithms) | ||
| Pathobiological Mechanisms | It belongs to the protease inhibitor superfamily and is involved in the proliferation, invasion and anti-apoptosis of tumor cells. It is highly specifically expressed in ovarian cancer. | ||||
| Clinical Availability Status | Clinical routine / guideline recommendation: FDA-approved for ovarian cancer risk assessment, core components of the ROMA algorithm. | ||||
| Notes and Dynamics | Specificity (approximately 90%) is significantly superior to CA-125. When combined with CA-125, the detection method has an AUC value of 0.88-0.92 for stage I ovarian cancer, effectively reducing the false positive rate. | ||||
| Biomarker | CA-125 | Full name | Cancer antigen 125 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (ELISA, CLIA, electrochemiluminescence immunoassay) | ||
| Pathobiological Mechanisms | Ovarian cancer cells show high expression, participating in the adhesion, invasion and peritoneal metastasis of tumor cells. The tumor burden is positively correlated with the serum level. | ||||
| Clinical Availability Status | Clinical routine application: As a core indicator for efficacy monitoring and recurrence warning, it has been included in clinical treatment guidelines. | ||||
| Notes and Dynamics | The early diagnosis has a low sensitivity. Benign diseases (endometriosis, pelvic inflammatory disease) are prone to false positives. It is often combined with HE4 for detection to enhance the efficacy of early diagnosis. | ||||