Episode 14: It's in your genes

New to Cancer Ninja? Click here to start at the beginning of Jane's story. You'll learn more about her and how she got to this point.

Jane had now spent a lot of time with Dr. Smith, and she felt like she had a good understanding of the surgery and the options related to the surgery ahead of her. However, there was someone else she needed to meet with before her surgery: a genetic counselor.

Genetic counselors are trained to help people understand how their genes play a role in their illness. Patients with breast cancer may be referred to a genetic counselor if there is a reason to suspect that one of the factors that lead them to develop their cancer came from their hereditary or genetic make up.

There are certain things we look for to help us figure out if a patient might have a genetic predisposition to cancer.  Among the factors that tip us off: if a patient has relatives (especially close relatives) who had breast or ovarian cancer (or pancreatic or colon cancer), if the patient was unusually young when she developed the disease, if she develops two separate primary cancers, or if the patient is a man who developed breast cancer (rare, but it happens).

When you meet with the genetic counselor, one thing he or she will do is take a detailed family history. This will be used to make a family tree, showing your relatives and (to the best of your knowledge) if any of them had cancer.  If they did have cancer, the family tree will also show what kind of cancer they had, and the age they were when the cancer was diagnosed.

Here’s Jane’s family tree (also called her pedigree) as drawn up by her genetic counselor. By convention, the females are depicted as circles and the males are depicted as squares. The top row shows her grandparents, the second row shows her parents’ generation, the third row has Jane’s generation, and the bottom row shows her son and her nieces & nephews.

Scientists have identified a number of genetic mutations (you can think of them as spelling errors in their DNA) that put people who have them at increased risk for certain cancers. This is an area of active research—expect more and more of these genetic mutations to be identified in the future. Your genetic counselor will talk to you and together you will decide if your DNA should be tested for one of these mutations. If you do decide to do the test, a sample of your blood will be sent to a lab for the testing.

You’ll have a number of options, and your genetic counselor will talk you through each one.  As we’ve talked about before, Angelina Jolie carries a mutation in the gene BRCA1, meaning she has a condition called Hereditary Breast and Ovarian Cancer Syndrome. Because of it, she was at increased risk for developing cancer in her breasts and ovaries. She opted to have surgery to remove her breasts and ovaries before cancer could develop.  That might be something you could end up considering, too.  Also, if you have a mutation like that, it might be recommended that you encourage some of your close relatives to be tested to see if they have the mutation, too.