About Cancer
What is Cancer?
Cancer is a disease caused by an uncontrolled division of abnormal cells in a part of the body. It can start almost anywhere in the human body, which is made up of trillions of cells. Normally, human cells grow and multiply to form new cells as the body needs them. When cells grow old or become damaged, they die, and new cells take their place.
However, sometimes this orderly process breaks down. Abnormal or damaged cells grow and multiply when they shouldn’t. These cells may form tumors, which are lumps of tissue. Tumors can be cancerous (malignant) or not cancerous (benign).
Cancerous tumors spread into, or invade, nearby tissues and can travel to distant places in the body to form new tumors (a process called metastasis). Many cancers form solid tumors, but cancers of the blood, such as leukemias, generally do not.
Cancer cells differ from normal cells in many ways. For instance, cancer cells grow in the absence of signals telling them to grow, ignore signals that normally tell cells to stop dividing or to die, invade into nearby areas and spread to other areas of the body.
There are many types of cancer, such as hematologic (blood) and solid tumor cancers. The treatment of cancer often involves surgery, radiation, and drugs such as chemotherapy.
Cancer Types & Conditions
ALK gene rearrangements and overexpression
Cancer types or cancer-like conditions: Non-small cell lung cancer, anaplastic large cell lymphoma, histiocytoses
What’s analyzed: Tumor
How used: To help determine treatment and prognosis
Alpha-fetoprotein (AFP)
Cancer types: Liver cancer and germ cell tumors
What’s analyzed: Blood
How used: To help diagnose liver cancer and follow response to treatment; to assess stage, prognosis, and response to treatment of germ cell tumors
B-cell immunoglobulin gene rearrangement
Cancer type: B-cell lymphoma
What’s analyzed: Blood, bone marrow, or tumor tissue
How used: To help in diagnosis, to evaluate effectiveness of treatment, and to check for recurrence
BCL2 gene rearrangement
Cancer types: Lymphomas, leukemias
What’s analyzed: Blood, bone marrow, or tumor tissue
How used: For diagnosis and planning therapy
Beta-2-microglobulin (B2M)
Cancer types: Multiple myeloma, chronic lymphocytic leukemia, and some lymphomas
What’s analyzed: Blood, urine, or cerebrospinal fluid
How used: To determine prognosis and follow response to treatment
Beta-human chorionic gonadotropin (Beta-hCG)
Cancer types: Choriocarcinoma and germ cell tumors
What’s analyzed: Urine or blood
How used: To assess stage, prognosis, and response to treatment
Bladder Tumor Antigen (BTA)
Cancer types: Bladder cancer and cancer of the kidney or ureter
What’s analyzed: Urine
How used: As surveillance with cytology and cystoscopy of patients already known to have bladder cancer
BRCA1 and BRCA2 gene mutations
Cancer types: Ovarian and breast cancers
What’s analyzed: Blood and/or tumor
How used: To help determine treatment
BCR-ABL fusion gene (Philadelphia chromosome)
Cancer types: Chronic myeloid leukemia, acute lymphoblastic leukemia, and acute myelogenous leukemia
What’s analyzed: Blood or bone marrow
How used: To confirm diagnosis, predict response to targeted therapy, help determine treatment, and monitor disease status
BRAF V600 mutations
Cancer types or cancer-like conditions: Cutaneous melanoma, Erdheim-Chester disease, Langerhans cell histiocytosis, colorectal cancer, and non-small cell lung cancer
What’s analyzed: Tumor
How used: To help determine treatment
C-kit/CD117
Cancer types: Gastrointestinal stromal tumor, mucosal melanoma, acute myeloid leukemia, and mast cell disease
What’s analyzed: Tumor, blood, or bone marrow
How used: To help in diagnosis and to help determine treatment
CA15-3/CA27.29
Cancer type: Breast cancer
What’s analyzed: Blood
How used: To assess whether treatment is working or if the cancer has recurred
CA19-9
Cancer types: Pancreatic, gallbladder, bile duct, and gastric cancers
What’s analyzed: Blood
How used: To assess whether treatment is working
CA-125
Cancer type: Ovarian cancer
What’s analyzed: Blood
How used: To help in diagnosis, assessment of response to treatment, and evaluation of recurrence
CA 27.29
Cancer type: Breast cancer
What’s analyzed: Blood
How used: To detect metastasis or recurrence
Calcitonin
Cancer type: Medullary thyroid cancer
What’s analyzed: Blood
How used: To aid in diagnosis, check whether treatment is working, and assess recurrence
Carcinoembryonic antigen (CEA)
Cancer types: Colorectal cancer and some other cancers
What’s analyzed: Blood
How used: To keep track of how well cancer treatments are working and check if cancer has come back or spread
CD19
Cancer types: B-cell lymphomas and leukemias
What’s analyzed: Blood and bone marrow
How used: To help in diagnosis and to help determine treatment
CD20
Cancer type: Non-Hodgkin lymphoma
What’s analyzed: Blood
How used: To help determine treatment
CD22
Cancer types: B-cell lymphomas and leukemias
What’s analyzed: Blood and bone marrow
How used: To help in diagnosis and to help determine treatment
CD25
Cancer type: Non-Hodgkin (T-cell) lymphoma
What’s analyzed: Blood
How used: To help determine treatment
CD30
Cancer types: Classic Hodgkin lymphoma, B-cell and T-cell lymphomas
What’s analyzed: Tumor
How used: To help determine treatment
CD33
Cancer type: Acute myeloid leukemia
What’s analyzed: Blood
How used: To help determine treatment
Chromogranin A (CgA)
Cancer type: Neuroendocrine tumors
What’s analyzed: Blood
How used: To help in diagnosis, assessment of treatment response, and evaluation of recurrence
Chromosome 17p deletion
Cancer type: Chronic lymphocytic leukemia
What’s analyzed: Blood
How used: To help determine treatment
Chromosomes 3, 7, 17, and 9p21
Cancer type: Bladder cancer
What’s analyzed: Urine
How used: To help in monitoring for tumor recurrence
Circulating tumor cells of epithelial origin (CELLSEARCH)
Cancer types: Metastatic breast, prostate, and colorectal cancers
What’s analyzed: Blood
How used: To inform clinical decision making, and to assess prognosis
Cytokeratin fragment 21-1
Cancer type: Lung cancer
What’s analyzed: Blood
How used: To help in monitoring for recurrence
Cyclin D1 (CCND1) gene rearrangement or expression
Cancer types: Lymphoma, myeloma
What’s analyzed: Tumor
How used: To help in diagnosis
Des-gamma-carboxy prothrombin (DCP)
Cancer type: Hepatocellular carcinoma
What’s analyzed: Blood
How used: To monitor the effectiveness of treatment and to detect recurrence
DPD gene mutation
Cancer types: Breast, colorectal, gastric, and pancreatic cancers
What’s analyzed: Blood
How used: To predict the risk of a toxic reaction to 5-fluorouracil therapy
EGFR gene mutation
Cancer type: Non-small cell lung cancer
What’s analyzed: Tumor
How used: To help determine treatment and prognosis
Estrogen receptor (ER)/progesterone receptor (PR)
Cancer type: Breast cancer
What’s analyzed: Tumor
How used: To help determine treatment
FGFR2 and FGFR3 gene mutations
Cancer type: Bladder cancer
What’s analyzed: Tumor
How used: To help determine treatment
Fibrin/fibrinogen
Cancer type: Bladder cancer
What’s analyzed: Urine
How used: To monitor progression and response to treatment
FLT3 gene mutations
Cancer type: Acute myeloid leukemia
What’s analyzed: Blood
How used: To help determine treatment
Gastrin
Cancer type: Gastrin-producing tumor (gastrinoma)
What’s analyzed: Blood
How used: To help in diagnosis, to monitor the effectiveness of treatment, and to detect recurrence
HE4
Cancer type: Ovarian cancer
What’s analyzed: Blood
How used: To plan cancer treatment, assess disease progression, and monitor for recurrence
HER2/neu gene amplification or protein overexpression
Cancer types: Breast, ovarian, bladder, pancreatic, and stomach cancers
What’s analyzed: Tumor
How used: To help determine treatment
5-HIAA
Cancer type: Carcinoid tumors
What’s analyzed: Urine
How used: To help in diagnosis and to monitor disease
IDH1 and IDH2 gene mutations
Cancer type: Acute myeloid leukemia
What’s analyzed: Bone marrow and blood
How used: To help determine treatment
Immunoglobulins
Cancer types: Multiple myeloma and Waldenström macroglobulinemia
What’s analyzed: Blood and urine
How used: To help diagnose disease, assess response to treatment, and look for recurrence
IRF4 gene rearrangement
Cancer types: Lymphoma
What’s analyzed: Tumor
How used: To help in diagnosis
JAK2 gene mutation
Cancer type: Certain types of leukemia
What’s analyzed: Blood and bone marrow
How used: To help in diagnosis
KRAS gene mutation
Cancer types: Colorectal cancer and non-small cell lung cancer
What’s analyzed: Tumor
How used: To help determine treatment
Lactate dehydrogenase
Cancer types: Germ cell tumors, lymphoma, leukemia, melanoma, and neuroblastoma
What’s analyzed: Blood
How used: To assess stage, prognosis, and response to treatment
Microsatellite instability (MSI) and/or mismatch repair deficient (dMMR)
Cancer types: Colorectal cancer and other solid tumors
What’s analyzed: Tumor
How used: To guide treatment and to identify those at high risk of certain cancer-predisposing syndromes
MYC gene expression
Cancer types: Lymphomas, leukemias
What’s analyzed: Tumor
How used: To help in diagnosis and to help determine treatment
MYD88 gene mutation
Cancer types: Lymphoma, Waldenström macroglobulinemia
What’s analyzed: Tumor
How used: To help in diagnosis and to help determine treatment
Myeloperoxidase (MPO)
Cancer type: Leukemia
What’s analyzed: Blood
How used: To help in diagnosis
Neuron-specific enolase (NSE)
Cancer types: Small cell lung cancer and neuroblastoma
What’s analyzed: Blood
How used: To help in diagnosis and to assess response to treatment
NTRK gene fusion
Cancer type: Any solid tumor
What’s analyzed: Tumor
How used: To help determine treatment
Nuclear matrix protein 22
Cancer type: Bladder cancer
What’s analyzed: Urine
How used: To monitor response to treatment
PCA3 mRNA
Cancer type: Prostate cancer
What’s analyzed: Urine (collected after digital rectal exam)
How used: To determine need for repeat biopsy after negative biopsy
PML/RARα fusion gene
Cancer type: Acute promyelocytic leukemia (APL)
What’s analyzed: Blood and bone marrow
How used: To diagnose APL, to predict response to all-trans-retinoic acid or arsenic trioxide therapy, to assess effectiveness of therapy, to monitor minimal residual disease, and to predict early relapse
Prostatic Acid Phosphatase (PAP)
Cancer type: Metastatic prostate cancer
What’s analyzed: Blood
How used: To help in diagnosing poorly differentiated carcinomas
Programmed death ligand 1 (PD-L1)
Cancer types: Non-small cell lung cancer, liver cancer, stomach cancer, gastroesophageal junction cancer, classical Hodgkin lymphoma, and other aggressive lymphoma subtypes
What’s analyzed: Tumor
How used: To help determine treatment
Prostate-specific antigen (PSA)
Cancer type: Prostate cancer
What’s analyzed: Blood
How used: To help in diagnosis, to assess response to treatment, and to look for recurrence
ROS1 gene rearrangement
Cancer type: Non-small cell lung cancer
What’s analyzed: Tumor
How used: To help determine treatment
Soluble mesothelin-related peptides (SMRP)
Cancer type: Mesothelioma
What’s analyzed: Blood
How used: To monitor progression or recurrence
Somatostatin receptor
Cancer type: Neuroendocrine tumors affecting the pancreas or gastrointestinal tract (GEP-NETs)
What’s analyzed: Tumor (by diagnostic imaging)
How used: To help determine treatment
T-cell receptor gene rearrangement
Cancer type: T-cell lymphoma
What’s analyzed: Bone marrow, tissue, body fluid, blood
How used: To help in diagnosis; sometimes to detect and evaluate residual disease
Terminal transferase (TdT)
Cancer types: Leukemia, lymphoma
What’s analyzed: Tumor, blood
How used: To help in diagnosis
Thiopurine S-methyltransferase (TPMT) enzyme activity or TPMT genetic test
Cancer type: Acute lymphoblastic leukemia
What’s analyzed: Blood and buccal (cheek) swab
How used: To predict the risk of severe bone marrow toxicity (myelosuppression) with thiopurine treatment
Thyroglobulin
Cancer type: Thyroid cancer
What’s analyzed: Blood
How used: To evaluate response to treatment and to look for recurrence
UGT1A1*28 variant homozygosity
Cancer type: Colorectal cancer
What’s analyzed: Blood and buccal (cheek) swab
How used: To predict toxicity from irinotecan therapy
Urine catecholamines: VMA and HVA
Cancer type: Neuroblastoma
What’s analyzed: Urine
How used: To help in diagnosis
Urokinase plasminogen activator (uPA) and plasminogen activator inhibitor (PAI-1)
Cancer type: Breast cancer
What’s analyzed: Tumor
How used: To determine aggressiveness of cancer and guide treatment
FoundationOne CDx (F1CDx) genomic test
Cancer type: Any solid tumor
What’s analyzed: Tumor, blood
How used: As a companion diagnostic test to determine treatment
Guardant360 CDx genomic test
Cancer type: Any solid tumor
What’s analyzed: Blood
How used: As a companion diagnostic test to determine treatment and for general tumor mutation profiling
5-Protein signature (OVA1)
Cancer type: Ovarian cancer
What’s analyzed: Blood
How used: To pre-operatively assess pelvic mass for suspected ovarian cancer
17-Gene signature (Oncotype DX GPS test)
Cancer type: Prostate cancer
What’s analyzed: Tumor
How used: To predict the aggressiveness of prostate cancer and to help manage treatment
21-Gene signature (Oncotype DX)
Cancer type: Breast cancer
What’s analyzed: Tumor
How used: To evaluate risk of distant recurrence and to help plan treatment
46-Gene signature (Prolaris)
Cancer type: Prostate cancer
What’s analyzed: Tumor
How used: To predict the aggressiveness of prostate cancer and to help manage treatment
70-Gene signature (Mammaprint)
Cancer type: Breast cancer
What’s analyzed: Tumor
How used: To evaluate risk of recurrence