Almost everyone has heard of the "Angelina Jolie gene" (the famous BRCA1 and BRCA2). Following the actress's story, the media spotlight focused almost exclusively on these names when discussing genetic vulnerability to health conditions, overshadowing pathologies such as breast cancer and ovarian cancer.
However, reducing the genetics of hereditary cancer to a single pair of genes is an incomplete view. In reality, the development of an oncological pathology is a process involving multiple interconnected factors. Today we introduce other key genes that participate directly in your cellular protection and are already part of the new advanced analyses for users of the Ultra genetic analysis (WGS 30x) at tellmeGen.
The scientific basis of genes related to hereditary cancer
Every day, inevitable life factors—such as solar radiation, cellular metabolism, or biological chance itself—cause constant damage to your DNA.
To counteract this, our cells have a sophisticated maintenance crew: the homologous recombination repair process, the most sophisticated maintenance system in our organism, in which tumor suppressor genes such as BRCA1 and BRCA2, among others, collaborate.
Joining this group are genes such as PALB2, ATM, or RAD51.
It is important to understand that these are not "cancer-causing genes." Their daily, silent, and perfect job is to protect you by repairing DNA errors. The probability of cancer only increases when we inherit a pathogenic variant that prevents them from correctly carrying out their protective work.
Much more than the BRCA genes
To make reading easier and help you understand how this protection network works, at tellmeGen we have grouped these new biomarkers according to their biological and clinical function:
1. The partners: PALB2, BARD1, BRIP1
These genes interact physically and directly with the BRCA1 and BRCA2 proteins.
- The clearest case is PALB2, whose literal name (Partner and Localizer of BRCA2) says it all: it is the indispensable bridge that unites the team.
- If these genes fail, the repair complex becomes destabilized, significantly increasing the vulnerability to developing breast and ovarian cancer.
2. The damage sensors: ATM and CHEK2
They are responsible for constantly monitoring the integrity of the genetic material.
- When DNA suffers damage, ATM sounds an immediate alarm.
- Next, CHEK2 acts by halting the cell cycle to prevent the cell from dividing and multiplying until the fault is completely repaired.
- Alterations in these genes are closely linked to an increased susceptibility to breast, prostate, and colon cancer, among others.
3. The frontline genes: RAD51C and RAD51D
They are specialized operatives who physically search for the homologous DNA strand to copy the lost information and close the gap caused by the damage. Their correct function is especially critical in protection against the risk of ovarian cancer.
4. The tissue architect: CTNNA1
Here we find a fascinating biological difference. CTNNA1 does not directly repair DNA; its function is to act as the "cellular cement" that keeps cells firmly bound together (cell adhesion). If this gene presents a pathogenic variant, cells lose cohesion and can become disorganized, which has been linked to hereditary diffuse gastric cancer and lobular breast cancer.
What happens if my tellmeGen results show a variant in these genes?
The primary response should be peace of mind and clinical perspective: having a pathogenic variant does not mean you will develop cancer 100% of the time. It simply indicates that you possess a higher genetic susceptibility than the general population.
In addition, it is essential to understand the concept of penetrance, which is the proportion of people with a certain mutation who end up manifesting the condition. Unlike BRCA1 and BRCA2 (which show high penetrance), many of these newly incorporated genes, such as CHEK2 or ATM, are considered to have moderate penetrance. This means that the absolute risk of developing the disease is statistically lower, a deeply reassuring piece of information for the patient.
The true power of preventive medicine
This is where the incalculable value of predictive medicine and your tellmeGen DNA test lies. For all these genes, there are very clear international medical protocols (such as the prestigious NCCN guidelines). Knowing in advance that you carry a variant in any of these genes allows your medical specialist to stay a step ahead:
- Scheduling mammograms or urological check-ups before the standard age.
- Incorporating high-resolution techniques, such as preventive magnetic resonance imaging (MRI).
- Designing a personalized screening plan adapted exclusively to your genetic map.
Genetics is no longer a mystery reserved for a privileged few, and knowing your vulnerabilities is the most powerful tool to take control of your well-being. With the incorporation of these new genes for Ultra users, at tellmeGen we continue to set the standard at the forefront of preventive health.
