Cancer Molecular Signature Risk Testing is for those individuals at a high risk or hereditary history of cancer of breast, colon, ovary, and prostate.

  •  The unique pattern of gene expression for a given cancer referred to as its Molecular Cancer Signature.
  • BRACA 1, 2 gene expression – increase the risk for cancer of  breast, ovarian, colon, pancreas and prostate
  • MSH2, MLH1, and MSH6 gene expression – increase the risk for colorectal, endometrial, ovarian, renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain, and breast cancers.

Chromosome hot-spot

CANCER is a disease characterized by uncontrolled cell growth and proliferation as a result of GENES alteration or mutation contributing to the development of CANCER. These mutations are then maintained through subsequent cell divisions and are thus present in all cancerous cells. Cancer Molecular Signature Testing or Gene Expression profiling is a cancer molecular biology technique to query the expression of numerous genes simultaneously, particularly the set of cancer-related genes.  In the context of cancer, gene expression profiling has been used to more accurately classify tumors, and to identify those individuals at risk of developing cancer or take preventable measurements in people with a hereditary history of cancer. The information derived from gene expression profiling often has an impact on predicting the patient’s clinical outcome and the optimal therapeutic regimen.

In a particular type of cell or tissue, only a small subset of an organism’s genomic DNA will be expressed as mRNAs at any given time. The unique pattern of gene expression for a given cell or tissue is referred to as its Molecular Signature. For example, the expression of genes in skin cells would be very different compared to those expressed in blood cells. Microarray analysis can provide quantitative gene expression information allowing for the generation of a molecular signature, each unique to a particular class of tumor.

Cancer Genes

“Genetic molecular testing illustrate the power of this technique to enhance our general understanding of cancer and, specifically, to aid in diagnosis and in the identification of targets for the development of preventable measurements and design of new therapeutic  modalities”, said Dr. Koduri in a recent interview


A smaller pool of genes that determine a particular expression pattern can be identified and is colloquially known as a Gene Signature, the process being called Gene Signature Profiling

In a 2001 study published by Sørlie et al.  The authors separated the ER-positive tumors into two distinct groups and found that tumor classification based on gene expression was related to patient survival. The expression of 427 genes was measured for 78 cancers and seven non-malignant breast samples. Following hierarchical clustering, the samples formed two groups at the highest level of organization reflecting the ER-positive and ER-negative phenotypes; the ER-negative cluster further stratified into groups identical to those described by Perou et al. In contrast to previous results, Sørlie et al. found that the ER-positive group could also be separated into three distinct subgroups termed luminal subtypes A, B, and, C based on patterns of luminal-specific gene expression with different outcomes. The authors further found once they performed survival analyses that tumors belonging to the various groups showed significantly different outcomes when treated uniformly

In addition to identifying genes that correlate to survival, microarray analyses have been utilized to establish gene expression profiles associated with prognosis. It is agreed upon that patients with tumors exhibiting poor prognostic features would benefit the most from ADJUVANT CHEMOTHERAPY as these treatments substantially improve overall survival for women with breast cancer.

Traditional prognostic factors, however, are inexact as mentioned above. Researchers at the NETHERLAND CANCER INSTITUTE were able to identify “good-prognosis” and “bad-prognosis” Molecular Signatures based on the expression of 70 genes that were better able to predict the likelihood oF Metastasis development within five years for breast cancer patientsMetastasis involves the spread of cancer from one organ to others throughout the body and is the principal cause of death in cancer patients. While the study at the Netherlands Cancer Institute applied to breast cancer patients only, researchers at Massachusetts Institute of Technology identified a molecular signature of metastasis that applied to adenocarcinomas in general.


At Hematology & Oncology Consults of Florida, our goal is to provide patients with the up to date medical technology for the benefit of patients and, of course, balance, with a pleasant Medical atmosphere. Our expansion and program progress continue to make great strides in all areas! To mention a few:

  • Molecular Signature Oncotype testing especially for those patients with cancer of breast, colon, and prostate.
  • Genetic Testing for an individual at a high cancer risk. We test for:
  • BRACA 1, 2 – increase the risk for cancer of breast, ovarian, colon, pancreas and prostate.
  • MSH2, MLH1, and MSH6 – increase the risk for colorectal, endometrial, ovarian renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain, and breast cancers.

The success of gene and gene expression profiling, such as the Oncotype DX® test for breast cancer patients, demonstrates that as technology becomes more sophisticated molecular diagnostics will continue to play a more important role in disease management in the future. Such promises have been and continue to be enabled by advances in real-time PCR, microarray detection platforms, and next-generation sequencing technologies. Our goals at Hematology & Oncology Consults of Florida are to educate, to stimulate discussion and to provoke efforts to build consensus, share resources, and establish standards in order to realize the promises of genomic technologies for routine patient care.


The information in this document does not replace a medical consultation. It is for personal guidance use only. We recommend that patients ask their doctors about what tests or types of treatments are needed for their type and stage of the disease.


  • American Cancer Society
  • The National Cancer Institute
  • National Comprehensive Cancer Network
  • American Academy of Gastroenterology
  • National Institute of Health
  • MD Anderson Cancer Center
  • Memorial Sloan Kettering Cancer Center
  • American Academy of Hematology