Cancer is a genetic disease. It occurs due to DNA mutations and many genes could be affected. The main types of gene involved in cancer are suppressors genes, proto-oncogenes and repair genes. Nearly 10% of cancers are hereditary. In such cases, the mutations are found in germ cells, with a 50% probability of it being transmitted to offspring. If treated in its early stages, response to treatment and survival both increase. When it comes to hereditary cancer, it is important to identify those family members that carry the familial mutation so that preventive measures can be adopted to prevent the onset of the disease.
There are many genetic studies available for the molecular diagnosis of cancer. These may be performed alone or in combination:
- Familial mutation study
- Gene sequencing
- Study of gene deletions and duplications
- NGS sequencing panel for various genes
ICM boasts a wide range of diagnostic tests in this very important field, and we invite you to take a look at the available list.
Characterisation of somatic mutations of the tumour for monitoring and selecting chemotherapy treatments. Tissue and liquid biopsy
Chemotherapy agents act on cancer cells, which are derived from healthy cells and share the same metabolic and functional processes. This means that drugs that act on cancer cells will also affect all other cells of the human body to a greater or lesser extent. As such, chemotherapy treatments also affect the rest of the body to varying degrees of severity. This is known as the toxic or side effects of the drug. In the vast majority of cases, the effects are cytotoxic, that is, the toxic effects of the drug on healthy cells. The cells most affected by the cytotoxic effects of chemotherapy are those cells that divide very actively, such as cells found in hair follicles, bone marrow, the digestive tract and the reproductive system.
The toxicity associated with chemotherapy treatment is a very important aspect, particularly given its negative impact on patient quality of life and the fact that it can be life-threatening in certain circumstances.
It is possible to prevent the side effects associated with each type of chemotherapy drug by studying the genetic profile of each patient, which offers extremely valuable information enabling us to predict response to treatment and toxicity. This in turn enables the specialist to better control the patient’s symptoms and to substantially improve the patient’s quality of life.
ICM boasts three liquid biopsy panels applied to lung cancer, colon cancer, and a global panel that includes more than 500 genes.
Liquid biopsy in lung cancer
A liquid biopsy is a tool for aiding the clinical management of lung cancer. It consists of the high-precision (>200X) next-generation sequencing of 11 genes involved in lung cancer, providing information on 105 genetic variations that are of clinical interest. The depth of the analysis provides information both on polymorphisms and point mutations, as well as variant number of copies, insertions/deletions and fusions in the selected genes.
The report that is issued is interpreted, enabling clinicians to select and monitor response to 15 drugs approved by the FDA for use in lung cancer therapy, as well as other drugs approved for use in other cancers but with relevance for lung cancer.
Liquid biopsy in colon cancer
The liquid biopsy in colon cancer consists of the high-precision (>200X) next-generation sequencing of 7 genes involved in colon cancer, which provide information on genetic variations of clinical interest.
The depth of the analysis provides information on the polymorphisms and point mutations in the selected genes.
Genomic platform for selecting treatment for breast cancer. Endopredict® (Myriad Genetics)
Endopredict analyses the expression of 12 genes and determines the risk level of patients using two unique levels--low risk and high risk--to facilitate clinical decision-making. Unlike other tests on the market, the multi-gene test eliminates patients at intermediate risk from the results, as well as the difficulty and uncertainty associated with the making of therapeutic decisions.
Using EndoPredict enables the risk of breast cancer recurrence to be predicted, providing more precise information to the clinician to ensure the best initial treatment for the patient is prescribed and facilitating the decision to continue or withdraw the treatment. More than 50% of relapses occur more than five years after the primary treatment, hence the need to correctly differentiate between patients with a high risk of recurrence and those at low risk. Thus, the multi-gene test seeks to support the decision-making process, prevent overtreatment and diminish the toxic effects derived from long-term exposure to chemotherapy.
Endopredict is the first multi-gene test to integrate classic factors, such as the size of the tumour and nodal status, in a hybrid clinical-molecular index that can predict a patient’s prognosis.
The aim of the multi-gene test is to overcome the limitation that has existed for decades, in which the classification of breast cancer has been based solely on histological appearance. The WHO classification selected 18 different histological types for breast cancer, though the diagnostic criterion for the characterisation of each of them was subjective, and the obtained information had little impact on therapeutic decisions.
Genetic expression studies and the development of molecular markers have identified various subtypes of breast cancer which are relevant to the prognosis of the disease and the establishment of appropriate and more adaptable treatments.
These subtypes are based primarily on the alteration of gene expression of those genes that code oestrogen and progesterone receptors, as well as the overexpression of the human epidermal growth factor receptor gene. Each of these have their own molecular and clinical characteristics that can predict the response patterns to systemic or targeted treatment.
Analysis of genes involved in the selection of, and response to chemotherapy treatments: Panel of 500 genes
The high-precision liquid biopsy provides information on the polymorphisms, point mutations and variation in the number of copies, insertions/deletions and fusions in the selected genes. This comprehensive analysis of more than 500 genes involved in the selection of, and response to chemotherapy provides biological information to facilitate the selection of first-line treatment options, or successive lines, substantially improving the clinical management of the patient.