In cancer, genetic mutations change how our cells work, particularly how they divide and multiply. The majority of these mutations happen during a person’s lifetime. Sometimes, though, people inherit mutations that put them at increased risk of developing an inherited (hereditary) cancer. Hereditary mutations cause about 5% to 12% of all cancers. Healthcare providers typically do genetic tests (DNA tests) to confirm someone has an inherited (hereditary) cancer.
If genetic tests show you have a hereditary mutation that increases your cancer risk, we may recommend that your family members have the same tests. Genetic testing for cancer may have significant medical, financial and psychological implications. If you are going to have a genetic test for cancer, you should work with genetic counselors before the tests so you understand all the ways genetic testing for cancer may affect you and your family.
Genetic mutations that lead to cancer change your DNA. Your DNA is responsible for building and maintaining your human structure and is organized into genes. Your genes contain instruction manuals for making proteins. Proteins control millions of actions, including how cells grow and multiply. Mutations that change the instructions needed to make certain proteins can turn healthy cells into cancerous cells. For example, the TP53 gene has the instruction manual for making a protein called tumor protein 53, or P53. This protein keeps your cells from dividing and growing too quickly or in an uncontrolled way so they become tumors. When your TP53 gene mutates, it loses or changes the instruction manual for making protein 53. Without properly functioning P53 proteins, cells can divide uncontrolled and become cancers.
Genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations. Genetic tests are available for some types of cancer.
A family member with more than 1 type of cancer. Family members who had cancer at a younger age than normal for that type of cancer. Close relatives with cancers that are linked to rare hereditary cancer syndromes. A rare cancer (in you or a family member), such as breast cancer in a man or retinoblastoma.
The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member. Even if you do not have the mutated gene, that does not necessarily mean you will never get the disease.
The cancers with the highest genetic contribution include breast, bowel, stomach and prostate cancers.