Your genome, an extensive set of genetic material composed of approximately 3 billion pieces of DNA, serves as the master instruction manual for your body. Every cell within your body contains this entire genome. If you consider your genome to be the complete instruction manual, then your genes—segments of DNA—are the individual sentences detailing how your body functions, which proteins to produce, your height, eye colour, and more.
The human genome comprises around 22,000 genes, and out of these, about 40 to 100 are crucial in protecting your body from cancer. Occasionally, a variant or mutation acts as an “off switch” for one of these cancer-protective genes, increasing your risk of developing cancer. Since these variants are often inherited, this risk can also be present in your children, parents, siblings, or other family members.
Genetic testing is used to identify if you have a variant that deactivates one of these critical 40 to 100 genes. Generally, about 7 to 10% of cancer cases are linked to a genetic predisposition that heightens susceptibility to the disease. However, the likelihood of genetic predisposition varies among different types of cancer. For instance, up to 20% or more of individuals with breast, ovarian, or pancreatic cancer have an inherited gene variant that predisposes them to these cancers. Conversely, cancers like bladder cancer or hepatocellular carcinoma (a type of liver cancer) are rarely caused by genetic variants.
There are more than 50 hereditary cancer syndromes associated with known genes, and scientific advancements in this area are rapidly progressing. Being diagnosed with a genetic predisposition to cancer or a hereditary cancer syndrome does not mean cancer is inevitable. Through specialised care, including targeted cancer surveillance, precision medical treatment, and preventive options, you can take proactive steps to manage your health. Roswell Park is committed to guiding you through this journey and providing the support needed at every stage.
Understanding the role of genetics in cancer risk is crucial. While genetic predispositions can increase the likelihood of developing certain cancers, advancements in genetic testing and personalised care offer significant hope and proactive management options.
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