Database 2: One page profiles of current genetic tests (Continued)

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14. Cancer Antigen 125
Test name Cancer Antigen 125
Other names CA 125
Description CA 125 is expressed by >80 percent of non-mucinous ovarian epithelial neoplasms. Approximately half of women with metastatic ovarian cancer have an elevated CA 125 level.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology MEIA, ICMA
Cancers Ovarian
Other cancers Lung, colorectal, pancreas, primary peritoneal carcinoma
Clinical use(s)
  a) Routine:
  • monitor response to treatment for patients with ovarian cancer.
  • detect recurrence of ovarian cancer.
Source of information Quest Diagnostics, Specialty Laboratories, UpToDate™ Web sites
Exploratory Medline search (8/02/05)
  1. “CA-125 antigen” = 1,391 citations.
  2. “ovarian neoplasms” = 15,743 citations.
  3. “CA-125 antigen” and “ovarian neoplasms” = 793 citations.

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15. Cancer Antigen 15-3
Test name Cancer Antigen 15-3
Other names CA 15-3
Description Elevated serum CA 15-3 concentrations are found in 5 percent of stage I, 29 percent of stage II, 32 percent of stage III and 95 percent of stage IV carcinoma of the breast. Most (96 percent) patients with a CA 15-3 increase of greater than 25 percent have disease progression. Most (nearly 100 percent) patients with a CA 15-3 decrease of greater than 50 percent are responding to treatment.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology ICMA
Cancers Breast
Clinical use(s)
  a) Routine:
  • Tumor marker used to monitor clinical course in patients with metastatic disease.
  • Change in CA 15-3 over time is predictive of response to therapy or progression of disease.
  • serum concentration correlates with tumor bulk.
Source of information Specialty Laboratories, LabCorps, UpToDate™ Web sites
Exploratory Medline search (8/02/05)
  1. “CA-15-3 antigen” = 1,629 citations.
  2. “breast neoplasm” = 57,603 citations.
  3. “CA-15-3 antigen” and “breast neoplasm” = 449 citations.

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16. Cancer Antigen 19-9
Test name Cancer Antigen 19-9
Other names CA 19-9
Description CA 19-9 is a mucin-glycoprotein first identified from a human colorectal carcinoma cell line and is present in epithelial tissue of the stomach, gall bladder, pancreas and prostate. Concentrations are increased in patients with pancreatic, gastric, and colon cancer as well as in some nonmalignant conditions. Increasing levels generally indicate disease progression, whereas decreasing levels suggest therapeutic response.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum or plasma
Methodology EIA
Cancers Colorectal, pancreatic, liver
Other cancers Gastric
Clinical use(s)
  a) Routine:
  • Monitor effectiveness of therapy in individuals with pancreatic cancer.
  • Monitor effectiveness of therapy in selected individuals with gastric and colon cancer.
Source of information Quest Diagnostics, LabCorps, and UpToDate™ Web sites.
Exploratory Medline search (8/02/05)
  1. “CA-19–9 antigen” = 816 citations
  2. “colorectal neoplasm” = 37,826 citations
  3. “CA-19–9 antigen” and “colorectal neoplasm” = 122 citations

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17. Cancer Antigen 27.29
Test name Cancer Antigen 27.29
Other names CA 27.29
Description Elevated CA 27.29 levels are primarily associated with metastatic breast cancer, where it can be used to monitor the course of disease, response to treatment, and detect disease recurrence. Elevated serum CA 27.29 concentrations are found in 95 percent of stage IV breast cancer. In addition, CA 27.29 has been found to be elevated in lung (43 percent), pancreas (47 percent), ovarian (56 percent), and liver (55 percent) cancer.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum protein
Methodology ICMA
Cancers Breast
Other cancers May also be elevated in lung, pancreas, ovarian, and liver cancer.
Clinical use(s)
  a) Routine:
  • In patients with metastatic breast cancer and an elevated level of this tumor marker, CA 27.29 can be used to monitor response to treatment, determine whether tumor has become resistant to therapy, or whether a patient has progressive disease.
Source of information Quest Diagnostics, LabCorp, Specialty Labs Web sites
Exploratory Medline search (5/12/05)
  1. “CA 27 29” or “CA 27-29” or “cancer antigen 27 29” = 18 citations
  2. “breast neoplasm” = 55886 citations
  3. “CA 27 29” and “breast neoplasms” = 16 citations
  4. “CA 27 29” and “lung neoplasms”(36152) = 0 citations
  5. “CA 27 29” and “pancreas neoplasms” (12117) = 0 citations
  6. “CA 27 29” and “ovarian neoplasms” (15334) = 1 citations
  7. “CA 27 29” and “liver neoplasms” (28088) = 2 citations

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18. Carcinoembryonic Antigen
Test name Carcinoembryonic Antigen
Other names CEA
Description CEA is an oncofetal glycoprotein present in the gastrointestinal tract and body fluids of the embryo and fetus. It is also present in certain adult gastrointestinal cells, including the mucosal cells of the colorectum, and small amounts are present in blood. Blood levels are often elevated in patients with disseminated cancers and in some patients with nonmalignant disease.
Purpose Secondary prevention, prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology ICMA
Cancers Breast, lung, colorectal, pancreas, ovarian
Clinical use(s)
  a) Routine:
  • Monitor persistent, metastatic, or recurrent adenocarcinoma of the colon following curative surgery
  • Recommended for staging/prognosis, detecting recurrence, monitoring therapy, and screening for hepatic metastases in patients with colon cancer.
Clinical use(s)
  b) Investigational
  • If CEA is elevated at the time of diagnosis and prior to initiation of treatment, it may be used to monitor response to therapy in patients with breast, lung, pancreas, ovarian cancers.
Source of information Quest Diagnostics, LabCorps, and UpToDate™ Web sites
Exploratory Medline search (8/02/05)
  1. “carcinoembryonic antigen” = 2,785 citations
  2. “breast neoplasm” or “lung neoplasm” or “colorectal neoplasm” or “pancreas neoplasm” or “ovarian neoplasm” = 162,473 citations
  3. “carcinoembryonic antigen” and (b) = 1,504 citations

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19. Cathepsin D
Test name Cathepsin D
Description This enzyme plays a critical role in protein catabolism and tissue remodeling. Over-expression is associated with non-ductal carcinoma and metastasis at the time of breast cancer diagnosis.
Purpose Prognostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue (formalin-fixed, paraffin-embedded)
Methodology IHC
Cancers Breast
Clinical use(s)
  b) Investigational
  • High levels may have clinical significance in predicting decreased metastasis-free survival and decreased overall survival in women with node-negative breast cancer.
Source of information Quest Diagnostics, LabCorps, and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “cathepsin D” = 1,001 citations
  2. “breast neoplasm” = 57,603 citations
  3. “cathepsin D” and “breast neoplasm” = 203 citations

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20. CBFB/MYH11 fusion protein
Test name CBFB/MYH11 fusion protein
Other names inv(16), t(16;16)
Description This inversion results in fusion of the core binding factor ß (CBFß) gene on 16q22 with the smooth muscle myosin heavy chain gene (MYH11) on 16p13. This fusion protein accounts for 16 percent of the chromosomal aberrations associated with AML and patients with inv(16) or t(16;16) generally have relatively good response and long-term disease-free survival rates.
Purpose Diagnostic, prognostic, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Blood, marrow
Methodology PCR
Cancers Acute myleomonocytic leukemia (AML subtype M4E0)
Clinical use(s)
  b) Investigational
  • Diagnosis of acute myelomonocytic leukemia (AML) with abnormal eosinophils, with inv(16) or t(16;16)
  • Monitor effectiveness of treatment
  • Monitor minimal residual disease
  • Predict early relapse
Source of information Quest Diagnostic and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “oncogene proteins, fusion” = 3,798 citations
  2. “leukemia, myelocytic, acute” = 4,151 citations
  3. “oncogene proteins, fusion” and “leukemia, myelocytic, acute” = 172 citations

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21. CD 117, c-kit
Test name CD 117, c-kit
Other names Imatinib mesylate (Gleevec) sensitivity
Description The glycoprotein c-kit (CD117) is a member of the receptor tyrosine kinase subclass III family and has been implicated in a number of malignancies. Imatinib mesylate, a tyrosine kinase inhibitor, is effective in treating GISTs and other tumors that express c-kit.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue
Methodology IHC
Cancers Gastrointestinal stromal tumors, c-kit positive
Clinical use(s)
  a) Routine:
  • Determine eligibility for treatment with imatinib mesylate in patients with c-kit-positive gastrointestinal stromal tumors (GISTs)
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “proto-oncogene protein c-kit” = 2,022 citations
  2. “gastrointestinal neoplasm” = 66,189 citations
  3. “proto-oncogene protein c-kit” and “gastrointestinal neoplasm” = 367 citations

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22. CD 20
Test name CD 20
Other names Rituximab (Rituxan) sensitivity
Description Rituximab is a genetically engineered, chimeric murine/human monoclonal antibody directed against the CD20 antigen found on the surface of normal and malignant B-cell lymphocytes. Since non-Hodgkin's Lymphoma (NHL) subtypes may differ in their response to rituximab, determination of drug sensitivity is important for choosing therapy.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Blood
Methodology Flow cytometry
Cancers B-cell non-Hodgkin's lymphoma
Clinical use(s)
  a) Routine:
  • Determine eligibility for rituximab (Rituxan; anti-CD20) treatment in patients with B-cell non-Hodgkin's lymphomas (NHL)
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “antigens, cd20” = 1,022 citations
  2. “lymphoma, Non-Hodgkin” = 22,160 citations
  3. “antigens, cd20” and “lymphoma, Non-Hodgkin” = 475 citations

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23. CD 25 (immunohistochemistry and flow cytometry)
Test name CD 25 (immunohistochemistry and flow cytometry)
Other names Denileukin diftitox (Ontak) sensitivity
Description Denileukin diftitox (Ontak) is a cutaneous T-cell lymphoma (CTCL) therapy that targets the high-affinity interleukin-2 (IL-2) receptor. The IL-2 receptor may exist in a low-affinity form (CD25), an intermediate-affinity form (CD122/CD132), and a high-affinity form (CD25/CD122/CD132). Patients whose malignant cells express the CD25 component of the IL-2 receptor may respond to Ontak therapy.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue (IHC), blood or marrow (flow cytometry)
Methodology IHC or flow cytometry
Cancers Cutaneous T-cell lymphoma
Clinical use(s)
  a) Routine:		 Determine eligibility for denileukin diftitox treatment in patients with persistent or recurrent CTCL
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “receptors, interleukin-2” = 4,221 citations
  2. “lymphoma, t-cell, cutaneous” = 2,157 citations
  3. “receptors, interleukin-2” and “lymphoma, t-cell, cutaneous” = 25 citations

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24. CD 33
Test name CD 33
Other names Gemtuzumab (Mylotarg) sensitivity
Description Gemtuzumab consists of a recombinant, humanized IgG kappa antibody conjugated to a cytotoxic anti-tumor antibiotic, calicheamicin, which binds specifically to the CD33 antigen. This antigen is found on the surface of leukemic blasts and immature normal cells of myelomonocytic lineage, but not in normal hematopoietic stem cells.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Blood, marrow
Methodology Flow cytometry
Cancers Acute myeloid leukemia (AML)
Clinical use(s)
  a) Routine:
  • Determine eligibility for gemtuzumab (Mylotarg, anti-CD33) treatment in patients with acute myeloid leukemia
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “antigens, cd” = 88,193 citations
  2. “leukemia, myelocytic, acute” = 4,151 citations
  3. “cd 33.mp” = 27 citations
  4. “antigens, cd” and “leukemia, myelocytic, acute” = 435 citations

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25. CD 52
Test name CD 52
Other names Alemtuzumab (Campath) sensitivity
Description CD52 is an antigen that can be expressed at high density on the surface of malignant CLL cells. Alemtuzumab is a humanized antibody targeted against CD52 and its binding is necessary for cell death and therapeutic response.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Blood, marrow
Methodology Flow cytometry
Cancers Chronic lymphocytic leukemia (CLL)
Clinical use(s)
  a) Routine:
  • Determine eligibility for alemtuzumab (Campath, anti-CD52) treatment in patients with chronic lymphocytic leukemia.
Source of information Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “antigens, cd” = 88,193 citations
  2. “leukemia, lymphocytic, chronic” = 3,422 citations
  3. “cd 52.mp” = 13 citations
  4. “antigens, cd” and “leukemia, lymphocytic, chronic” = 646 citations

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26. Chromosome 18q assay
Test name Chromosome 18q assay
Other names 18q/RER, DCC
Description Colorectal cancer patients with tumors with chromosome 18 deletion are more likely to have disease recurrence and have a shorter disease-free survival period when compared to patients with two copies of this chromosome.
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Blood, tissue
Methodology PCR
Cancers Colorectal cancer
Clinical use(s)
  a) Routine:
  • Diagnosis of colorectal disease
  • Predict recurrence of disease
Source of information LabCorps and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. "chromosomes, human, pair 18” = 1,824 citations
  2. “colorectal neoplasms” = 37,826 citations
  3. “chromosomes, human, pair 18” and “colorectal neoplasms” = 108

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27. Colaris
Test name Colaris
Other names MLH1, MSH2
Description Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for about 3 percent to 5 percent of colorectal cancers (CRCs) and is caused by defects in mismatch repair (MMR) enzymes. These defects may also increase the risk of endometrial, cervical, stomach, ovarian, and other forms of cancer. About 90 percent of individuals with HNPCC have mutations in 1 of 2 MMR genes, MLH1 or MSH2.
Purpose Secondary prevention, diagnostic
Availability Commercial laboratories, academic hospitals
Specimen Blood
Methodology PCR
Cancers Colorectal
Other cancers Endometrial, cervical, stomach, ovarian
Clinical use(s)
  a) Routine:
  • Differentiate hereditary nonpolyposis colorectal cancer (HNPCC) from non-HNPCC colorectal cancer (CRC)
  • Assess risk of HNPCC in family members of individuals with HNPCC
Source of information Quest Diagnostics, LabCorps, UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “colorectal neoplasm, hereditary nonpolyposis” = 1,363 citations
  2. “base pair mismatch” = 2,251 citations
  3. “colorectal neoplasm, hereditary nonpolyposis” and “base pair mismatch” = 268 citations

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28. Colaris AP
Test name Colaris AP
Other names APC, FAP
Description Used to identify patients who may have disease-causing mutations, by sequencing the coding region of the APC gene. Individuals with mutations in this gene are at risk for developing early onset of colon cancer. Identifying these mutations makes allows for presymptomatic diagnosis of familial adenomatous polyposis (FAP).
Purpose Secondary prevention, diagnostic
Availability LabCorp
Specimen Blood
Methodology PCR
Cancers Colorectal
Clinical use(s)
  a) Routine:
  • Identify genetic predisposition to colorectal cancers associated with FAP
Source of information LabCorp Web site
Exploratory Medline search (8/2/05)
  1. “genes, apc” = 1,167 citations
  2. “colorectal neoplasm, hereditary nonpolyposis” = 1,363 citations
  3. “genes, apc” and “colorectal neoplasm, hereditary nonpolyposis” = 57 citations

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29. Cyclin D1
Test name Cyclin D1
Description D-type cyclins are predominantly expressed in the G1 phase of the cell cycle. The expression pattern of cyclin D1 has been extensively studied in certain cancer types including lymphoma and non-small cell lung cancer. Approximately 30 percent of breast carcinomas are Cyclin D1 positive. Over expression of Cyclin D1 is now a well established criterion for the diagnosis of Mantle Cell Lymphoma, a malignant, non-Hodgkin's lymphoma which is characterized by a unique chromosomal translocation t(11;14).
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Blood, tissue
Methodology FISH
Cancers Mantle cell lymphoma
Clinical use(s)
  a) Routine:
  • Diagnosis of mantle cell lymphoma
  • Predict recurrence of disease
Source of information LabCorp and UpToDate™ Web sites
Exploratory Medline search (8/2/05)
  1. “cyclin d1” = 2,877 citations
  2. “lymphoma, mantle cell” = 539 citations
  3. “cyclin d1” and “lymphoma, mantle cell” = 85 citations

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30. E-cadherin
Test name E-cadherin
Description E-cadherin is a calcium-dependent epithelial cell-cell adhesion molecule that is associated with tumor invasiveness and disease progression. Ecadherin under-expression appears to be associated with poor tumor differentiation, progression following radical prostatectomy, and diminished overall survival.
Purpose Prognostic
Availability Commercial laboratories, academic hospitals
Specimen Tissue
Methodology IHC
Cancers Prostate
Clinical use(s)
  a) Routine:
  • Determine prognosis, predict tumor behavior and response to therapy.
Source of information Quest Diagnostics and UpToDate™ Web sites

Exploratory Medline search (8/2/05)
  1. “cadherins” = 4,880 citations
  2. “prostatic neoplasm” = 25,690 citations
  3. “cadherins” and “prostatic neoplasm” = 115 citations

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