Cancer Genetics

Cancer Genetics: Explain how genetic testing is used to identify inherited cancer risks and guide treatment decisions

Are all cancers genetic (hereditary) in nature?
Not all the cancers caused are hereditary in nature. Hereditary cancers are the ones which run in families and these include a spectrum of cancers. For example, breast cancers and ovarian cancers run together and this syndrome is called hereditary breast ovarian cancer syndrome (HBOC). There is a high risk of hereditary cancers when the cancers occur in individuals at a young age. Therefore, it is important to know about the detailed family history of cancers and any other medical illness on both paternal and maternal family members as hereditary cancers can be from both parents.

cancer-genetics.jpg

Is genetic testing done in all cancers?
Simple and direct answer to this question is NO. Genetic testing is not done in all cancers. There are specific indications for genetic testing in cancer. Before going into further details, one should know that genetic testing is basically of two types in cancers. First is the somatic testing and second is the germline testing. Somatic genetic testing is done on the cancer tissue specimen and will let us know about the mutations that occurred in that specific cancer; these mutations can be either inherited or acquired. The second type is germline genetic testing, which tests whether there are any inherited genetic mutations in the cancer. These are the mutations which can run in families.

When to get genetic testing done?
Somatic testing or germline genetic testing is done based on the age, type of cancer, detailed family history, and therapeutic implications of the cancer type. As already discussed, there is no need for genetic testing in all cancers.

How does genetic testing guide in the management of cancers?
Depending on the somatic and germline mutations identified, genetic testing can help in cancer treatment and screening. For example, if an ovarian cancer patient with a family history of breast cancer has a BRCA1 germline mutation, she is eligible for treatment with PARP inhibitors (targeted therapy), which has a high impact on disease progression and survival. Family members of the patient are also eligible for genetic testing and should be screened for specific cancers for early detection and management, which could be worse if not detected early.