Unravelling Genetic Testing’s Potential in Cancer Risk Stratification..

In the quest to conquer cancer, one of the most promising advancements is the rise of genetic testing. These revolutionary tools allow us to peek into our DNA, identify potential threats and enable us to take proactive steps towards prevention and early detection. At Randox Health, we’re leading the charge in providing personalized health insights through innovative testing methods.

The Genetic Cancer Risk test stands out for its potential to transform the landscape of cancer prevention and early risk detection. By leveraging the capabilities of genetic testing, this service delivers vital health information to individuals, empowering them to take a proactive stance in managing their health

Genetic Testing and Cancer Risk

Genetic testing identifies changes, or mutations, in a person’s genes that could increase their risk of developing a disease, in this case, cancer. These mutations can be inherited from our parents or can occur spontaneously¹. Some of the most important genetic alterations associated with cancer include mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancer, and mutations in genes like TP53 and MLH1, which are linked to various forms of cancer². We’ll look at these in a bit more detail later.

These genetic alterations can lead to the development of cancer by causing cells to grow and divide uncontrollably, leading to the formation of a tumour. Understanding these genetic changes can help doctors predict a person’s risk of developing certain types of cancer and guide treatment decisions if cancer does develop¹.

Genetic testing for cancer risk typically involves a blood or saliva sample. The sample is sent to a laboratory where scientists extract DNA and analyse it for mutations in specific genes associated with an increased risk of cancer. The results of these tests can provide valuable information about an individual’s cancer risk and guide decisions about prevention and early detection strategies¹.

It’s important to note that a positive test result does not necessarily mean a person will develop cancer, but rather that they have a higher risk. Conversely, a negative result does not guarantee that a person will not get cancer, as many cancers are not caused by inherited mutations but by mutations that occur over a person’s lifetime¹.

BRCA1 and BRCA2

BRCA1 and BRCA2 are two of the most well-studied genes in the context of cancer detection and risk stratification. Mutations in these genes are associated with a significantly increased risk of breast and ovarian cancer. The BRCA1/2 genes are tumour suppressors that play a critical role in DNA repair. When these genes contain harmful variants, the DNA repair process can be compromised, leading to genomic instability and increased cancer risk². Genetic testing for BRCA1/2 mutations is now a standard component of risk assessment for breast and ovarian cancer. Individuals who carry these mutations may choose to undergo increased surveillance, chemoprevention, or prophylactic surgery to manage their cancer risk. Furthermore, cancers that arise in individuals with BRCA1/2 mutations often have distinctive characteristics that can influence treatment decisions. For example, BRCA1/2-associated cancers are often sensitive to platinum-based chemotherapy and PARP inhibitors, a class of drugs that exploit the DNA repair deficiency in these forms of cancer².

TP53

The TP53 gene is one of the most frequently mutated genes in human cancers. It encodes the p53 protein, commonly referred to as ‘the guardian of the genome,’ which plays a crucial role in preventing cancer by regulating cell division and apoptosis. Mutations in TP53 can lead to the production of a dysfunctional p53 protein, allowing cells with damaged DNA to continue to divide and potentially form a tumour³. TP53 mutations are associated with Li-Fraumeni syndrome, a rare, inherited disorder that greatly increases the risk of developing several types of cancer. Genetic testing for TP53 mutations can identify individuals with Li-Fraumeni syndrome and guide strategies for cancer prevention and early detection. Furthermore, TP53 status can influence the management of certain types of cancer. For example, in chronic lymphocytic leukaemia, TP53 mutations are associated with a poor response to standard chemotherapy regimens³.

MLH1

The MLH1 gene is a key player in the DNA mismatch repair system, which corrects errors that occur during DNA replication. Mutations in MLH1 can lead to a condition known as Lynch syndrome, which significantly increases the risk of colorectal cancer, endometrial cancer, and several other types of cancer⁴. Genetic testing for MLH1 mutations can identify individuals with Lynch syndrome and guide strategies for cancer prevention and early detection. For example, individuals with Lynch syndrome may benefit from regular colonoscopies starting at an earlier age than the general population. In addition, tumours that arise in individuals with Lynch syndrome often have distinctive characteristics, such as microsatellite instability, that can influence treatment decisions⁴.

The Genetic Cancer Risk test covers 94 genes suspected to play a role in predisposition to cancer, including genes associated with increased risk of breast, ovarian, prostate, colorectal, thyroid cancer and more. This test is designed to provide a more comprehensive analysis of a person’s genetic risk for developing cancer. The test includes a consultation with a genetic counsellor, DNA analysis performed on a simple blood sample, and results within six weeks.

Results of your Genetic Testing

When you receive the results from your genetic testing, there are three possible results you might get. The table below details these:

In the fight against cancer, knowledge is power. Randox Health’s Genetic Cancer Panels provide valuable insights into your personal risk, empowering you to take control of your health. With these tools, we can move from a reactive approach to a proactive one, catching cancer before it starts or in its early stages when it’s most treatable. It’s not just about adding years to your life but adding life to your years.