ANTICIPATE EARLY DETECTION WITH RISK ASSESSMENT
By monitoring the accumulation of mutations over time, we aim to anticipate the development of solid cancers from the initial genetic mutations. These mutations precede the development of cancer (many years might elapse between the appearance of the first driver mutation and cancer development), and early identification can significantly improve survival rates. In most cases, current diagnostic methods (such as mammography, X-rays, colonoscopy and dermoscopy) detect lesions that are already of cancerous nature. Identifying cancer causing mutations may allow earlier diagnosis and better patient outcome.
A somatic mutation is not present in the zygote, but is acquired later on in life. These mutations occur in single cells that and accumulate upon cell division. Since these mutations are not hereditary, they are not inherited by future generations. Most cancers result from somatic mutations.
MUTATIONS AND GENETIC INSTABILITY ARE INDICATORS OF CANCER RISK
Environmental factors such as smoking, diet, hormone imbalance and radiation/sun exposure can lead healthy individuals to develop cancerous mutations. Mutations can also randomly occur during the process of cell division. Every cell division can lead to mutation occurrence and it is important to realize that genetic mutations happen in our cells all the time. Usually, cells have mechanisms to detect novel mutations and repair the affected DNA sequence. If the mutation is too severe to be correctly repaired, the cells receive a signal to execute a cell death process called apoptosis. Cancer cells fail to execute cell death programs despite the presence of genetic mutations and replicate the damaged DNA. The number of genetic mutations increases while the accuracy of repair mechanisms decreases with age. For this reason, the risk of developing cancer increases with age.
Many tumor types initially develop asymptomatically and many patients are diagnosed only at an advanced stage, when surgical resection for complete tumor clearance is no longer applicable. It has been demonstrated that, for several tumor types, 10-30 years might elapse between the occurrence of an initiating driver mutation and patient death.
Precision medicine is an approach that allows physicians to select treatments based on the genetic abnormalities of each individual patient. Currently, patients diagnosed with a certain cancer type/subtype usually all receive the same standard of care treatment. However, not all patients respond equally well to a given treatment, and many patients are given sub-optimal therapies. In contrast, with a precision medicine approach, the mutational profile of each patient serves as a reference for treatment decisions, and allows clinicians to identify the best treatment for each patient.