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What You Need to Know About Cancer Genetics & Genomics

February 2015 Vol 1 No 1
Jennifer R. Klemp, PhD, MPH, MA
Founder/CEO
Cancer Survivorship Training, Inc.
Associate Professor of Medicine
Division of Clinical Oncology
Director, Cancer Survivorship
The University of Kansas Cancer Center
Westwood, Kansas

Everyone is familiar with the word “cancer.” But when cancer impacts you or your family, it takes on a whole new meaning, literally. Cancer is a complex disease, and has many different ways to look, behave, and respond to therapy. Cancer is multifactorial and involves the relationship between your genes, lifestyle, and environmental factors. Understanding the influences of all these factors on cancer will help to answer the following questions:

  1. What is my risk for developing cancer, and what type?
  2. If I have cancer, what type of “biomarkers” and “genomic” tests will I need to have, and how will they influence my treatment recommendations and potential response to therapy?
  3. How long will I have to use the cancer treatment?

Let’s start with a basic review of the human genome, which is your instruction manual—how you are built. This complete set of instructions is composed of your DNA that is packaged in 23 pairs of chromosomes per cell and includes additional information that can modify or support your genetic profile or instructions. You inherited 1 set of chromosomes from each of your biologic parents—1 from your mom and 1 from your dad. A gene is a part of the genome that carries instructions for everything that happens in your body. So, how do these genes impact cancer?

Your Genes Count

Cancer genetics and genomics are becoming very common in the care of patients with all types of cancer. It is therefore important to understand how these factors may influence your risk for and options for prevention of future cancer, as well as the treatment planning for your specific cancer and genetic makeup. This field is growing rapidly, so if there is a history of cancer in your family, or if you have been newly diagnosed or have been living with cancer, it is important to have an ongoing dialogue with your healthcare team about how your genes affect your cancer care, and the options for your family.

Cancer Genetics

Cancer genetics is the science of inherited traits, specifically what you were passed down from your mother or father, including certain genetic mutations (alterations in the gene). This is the type of genetic mutation you were born with (heritable), and it can influence your risk for getting certain types of cancer. The most common mutations we think of are BRCA1 and BRCA2 and their risk for breast or ovarian cancer, or HNPCC (hereditary nonpolyposis colorectal cancer) and the risk for colon or endometrial cancer.

These genetic mutations can increase the risk for cancer a little or a lot, and it requires a cancer genetics expert to counsel, test, and advise you and your family of these risks and strategies to reduce or minimize the cancer risk. It has recently also been reported that certain genetic mutations may mean that a patient has a more favorable response to treatment, especially in relation to what is known as “triple-negative breast cancer” and ovarian cancer. Not every individual and their families are good candidates for genetic testing, but knowing your personal and family history of cancer is the first step in the process.

Cancer Genomics

Cancer genomics is the science of a set of many genes. Mutations in these genes can either be inherited or can happen during our lifetime. Cancer genomics tries to explain how these genes express themselves (how they affect the body) or how they act within their environment. So, if the mutation is active and has negative interactions, it can influence how a cancer develops. Genomic testing will look at the alterations or mutations that influence cancer development, growth, and response to therapy, and they can also influence the type and duration of therapy that is recommended for the patient with that mutation.

The use of targeted therapies results in patients having less exposure to therapies that may not help them and having less exposure to toxic drugs that may not be beneficial to their cancer treatment, or could potentially add more harm than good.

Somatic Mutations

Other genetic mutations are not inherited, but rather we accumulate them over our lifetime. These are called somatic mutations, and we all acquire them, and some will increase the chance of developing disease such as cancer. Once a cancer develops, testing for somatic mutations is done on the tumor. Examples of somatic mutations include HER2-neu in breast cancer, and KRAS, EGFR, and ALK in non–small-cell lung cancer.

The genetic tests for these mutations look for genetic mutations in the tumor, and, if found, that mutation will indicate a particular type of therapy for that unique patient. This is called “biomarker-directed therapy.”

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