1) Hereditary Cancer Screening
Some cancers can be common within a family, and the inherited mutation can be passed down to further generations. Such families will often times have multiple relatives with cancer—not necessarily of the same type—and most likely be affected before the age of 50. If you suspect hereditary cancer in your family, it is recommended that you meet with a genetic counselor who can provide you with a personalized genetic cancer risk assessment and determine if genetic testing is a good option for you and your family. Being aware of this information allows you and your doctor to determine a preventative treatment plan for early diagnosis, such as mammograms, colonoscopies, and CT scans. You may also be empowered to adopt a healthier lifestyle and increase awareness in your family.
Hereditary cancer screening is done by testing the DNA extracted from a blood sample. A couple considering having a baby may wish to have their DNA tested to screen for mutations in certain genes that are associated with common and rare hereditary cancers. A panel of genes is used to identify any possibility the future parent will pass on genes that might cause hereditary cancer in their future children.
What is hereditary cancer?
About 10% of cancers can be categorized as hereditary. This means that 10% of individuals affected with cancer developed the disease due to inherited genetic mutations from either parent. Knowing if your cancer is due to inherited factors can be useful in deciding which screening tests, prevention options, or target therapies to pursue.
What is the test and how does the test work?
The test uses DNA from blood samples. Using Next-Generation Sequencing technology, we can take these samples and analyze them for mutations associated with both common and rare hereditary cancers.
Why should we get tested?
A hereditary cancer screen can provide you information about certain genetic risks that you might have. This information is important because if you find out that you are at risk, you can discuss preventative options early on with your doctor. In terms of trying to start a family, there is a 50% chance that your genetic mutation could be passed onto your children. Knowing this can help you plan additional genetic testing that might be needed to reduce future cancer risks.
2) Somatic Cancer Diagnosis
The majority of cancers are not inherited—most occur randomly, and affects individuals who are older with little to no genetic risk or family history of the disease. These are known as somatic cancers, and may occur in any part of the body. The genetic alterations that cause these cancers occur in a person’s lifetime; they are not born with them as with hereditary cancers. Typically, tumors from these cancers can be biopsied and the DNA tested to screen for mutations that may be responsible for the cancer. This allows a patient’s doctor to determine the prognosis and best treatment options.
Somatic cancer diagnosis is done by testing the DNA extracted from solid tumor biopsy in the form of an FFPE block is analyzed for mutational hotspots in different genes that are linked with many cancers, including melanoma, colorectal, ovarian, and lung cancer.
What is somatic cancer?
Somatic cells account for most of the cells in the human body. These types of cells are growing, dividing, and dying constantly. However, that process is not always error-free, and mistakes lead to mutations. Somatic cancers are those that arise due to the accumulation of these somatic mutations throughout a person’s lifetime. Unlike hereditary cancers, somatic cancers are not inherited and can happen spontaneously to anyone, regardless of any family history.
Why should I have this test?
This test has the potential to detect cancer cases in the early stages of the disease. The genetic information that results from a somatic cancer screen can also advise diagnosis, prognosis, and selection of different treatments or targeted therapies.