PTEN Mutation Test: Tumor Suppressor Gene, Cancer Risk, Pathway Alteration, and Meaning
A PTEN mutation test looks for changes in the PTEN tumor suppressor gene, but the meaning depends strongly on what sample was tested. A...
RET Fusion Test: Lung Cancer, Thyroid Cancer, Gene Fusion, and Result Meaning
A RET fusion test looks for an abnormal rearrangement that joins part of the RET gene to another gene, creating a continuously active growth...
RUNX1 Mutation Test: AML, Myelodysplastic Syndrome, Mutation Status, and Prognosis
A RUNX1 mutation test looks for changes in RUNX1, a transcription-factor gene that helps blood stem cells mature normally. Acquired RUNX1 mutations occur in...
SMARCB1/INI1 Loss Test: Rhabdoid Tumor, Sarcoma, IHC Loss, and Interpretation
A SMARCB1/INI1 loss test usually refers to immunohistochemistry (IHC) that checks whether tumor-cell nuclei retain the INI1 protein made by the SMARCB1 gene. Complete...
Solid Tumor NGS Panel Test: Tumor Mutations, Gene Fusions, Copy Number Changes, and Molecular Results
A solid tumor next-generation sequencing (NGS) panel analyzes many cancer-related genes at once to identify mutations, gene fusions, copy-number changes, and sometimes genomic biomarkers...
SS18-SSX Fusion Test: Synovial Sarcoma, Gene Fusion, and Molecular Diagnosis
An SS18-SSX fusion test looks for the defining molecular abnormality of synovial sarcoma: a rearrangement involving SS18 on chromosome 18 and an SSX gene...
TFE3 Fusion Test: Kidney Cancer, Soft Tissue Tumor, Translocation Marker, and Result Meaning
A TFE3 fusion test looks for rearrangements of the TFE3 transcription-factor gene on chromosome Xp11. These fusions define or strongly support several uncommon tumor...
TP53 Mutation Test in Leukemia High-Risk Blood Cancer, Mutation Status, and Prognosis
A TP53 mutation test looks for changes in TP53, a tumor suppressor gene that helps damaged cells stop dividing or undergo cell death. In...
TP53 Mutation Test Li-Fraumeni Syndrome, Tumor Suppressor Gene, Cancer Risk, and Prognosis
A germline TP53 mutation test is used to evaluate Li-Fraumeni syndrome (LFS) and the broader spectrum of heritable TP53-related cancer predisposition. TP53 is a...
Tumor Mutational Burden (TMB) Test Genomic Score, Mutation Load, and Immunotherapy Marker Meaning
A tumor mutational burden (TMB) test estimates how many acquired mutations are present across a defined amount of tumor DNA, usually reported as mutations...
BRCA1 and BRCA2 Test for Breast Cancer: Hereditary Risk, Variant Meaning, and Family Risk
A BRCA1 and BRCA2 test looks for inherited gene variants that can substantially raise the risk of breast, ovarian, pancreatic, prostate, and certain other...
Breast Cancer Biomarker Panel: ER, PR, HER2, Ki-67, Genomic Tests, and Tumor Profile
A breast cancer biomarker panel is not one universal blood test. It is the combined set of pathology and molecular tests used to describe...
Breast Cancer Gene Panel Test: BRCA, PALB2, CHEK2, ATM, and Hereditary Risk
A hereditary breast cancer gene panel tests several cancer-predisposition genes at the same time instead of looking only at BRCA1 and BRCA2. Common panels...
Breast Cancer Index Test: Late Recurrence Risk and Hormone Therapy Benefit Score
Breast Cancer Index (BCI) is a tumor gene-expression test used in selected hormone receptor-positive, HER2-negative early breast cancers to refine two questions that become...
CA 15-3 Test for Breast Cancer: Tumor Marker Levels, Monitoring, and Recurrence
CA 15-3 is a blood tumor marker that measures a circulating form of the MUC1 protein, which can be released by breast cancer cells...
CA 27.29 Test for Breast Cancer: Tumor Marker Levels, Monitoring, and Recurrence
CA 27.29 is a blood tumor marker that measures a circulating form of the MUC1 protein, which can be released by breast cancer cells...
Circulating Tumor DNA Test for Breast Cancer: MRD, Recurrence, Mutation Detection, and Monitoring
A circulating tumor DNA (ctDNA) test looks for fragments of DNA released by cancer cells into the bloodstream. In breast cancer, ctDNA has two...
EndoPredict Test: Breast Cancer Recurrence Risk and Genomic Prognosis
EndoPredict is a gene-expression test used in selected estrogen receptor-positive, HER2-negative early breast cancers to estimate the risk of distant recurrence. It measures expression...
ESR1 Mutation Test for Breast Cancer: Hormone Resistance Marker, Recurrence, and Mutation Meaning
An ESR1 mutation test looks for acquired changes in the gene that encodes estrogen receptor alpha, a major driver of hormone receptor-positive breast cancer....
Estrogen Receptor (ER) Test: Breast Cancer Hormone Receptor Status, Positive Score, and Meaning
An estrogen receptor (ER) test shows whether breast cancer cells contain estrogen receptor protein and how many tumor-cell nuclei stain for it. Pathologists usually...