What is BRCA and Lynch Syndrome Testing & Why You May Want To Explore Getting Tests

What is BRCA and Lynch Syndrome Testing & Why You May Want To Explore Getting Tests

Many of us today have been impacted by cancer on a personal level.  We either know a friend, a friend’s relative, or a relative of our own that has been diagnosed with cancer.   Unfortunately, this is because cancer is so prevalent today.  The National Cancer Institute provides statistical insight into the prevalence of cancer and specifics about which types are most prevalent, “In 2016, an estimated 1,685,210 new cases of cancer will be diagnosed in the United States and 595,690 people will die from the disease…The most common cancers in 2016 are projected to be breast cancer, lung and bronchus cancer, prostate cancer, colon and rectum cancer, bladder cancer, melanoma of the skin, non-Hodgkin lymphoma, thyroid cancer, kidney and renal pelvis cancer, leukemia, endometrial cancer, and pancreatic cancer.”

With such a high prevalence, it is no wonder that many individuals seek out genetic testing and counseling to determine if they have a genetic predisposition to cancer.  Many people may have heard of the BRCA gene but there are actually two – BRCA1 and BRCA2 that can give genetic insight into a potential increased risk of breast cancer.  But, the BRCA genes are not the only genetic indicator of an increased risk of cancer, individuals that have Lynch Syndrome may be at an increased risk of colorectal and uterine cancer.

Individuals would likely not know they have Lynch syndrome until they undergo genetic testing – there are no symptoms – which is why genetic testing is so important if you have a family history of colorectal, endometrial or uterine cancer.  Mayo Clinic provides some insight into what Lynch Syndrome is and how significantly it increases the risk of cancer, “Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC). A number of inherited syndromes can increase your risk of colon cancer, but Lynch syndrome is the most common. Doctors estimate that about 3 out of every 100 colon cancers are caused by Lynch syndrome. Families that have Lynch syndrome usually have more cases of colon cancer than would typically be expected.”  If you have a family history or concern, genetic testing is important to assess how to best manage your health going forward.  If you get a positive result, it does not mean you have cancer or will even get cancer, but the information, paired with family history, may provide helpful insight into your health and help you and your doctor form a strategic cancer screening plan and should you get cancer, will impact treatment plan as well.

BRCA1 and BRCA2 genetic mutations can be inherited from either side of your family.  The National Cancer Institute describes what exactly these genetic mutations are and how they increase the risk of certain types of cancer, “BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer. Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall.”  Similar to Lynch Syndrome, individuals would not have symptoms of having the BRCA1 or BRCA2 gene but if you have a family history of breast or ovarian cancer, it is wise to undergo genetic testing to see if you have inherited either gene.  If you do have a positive result, your doctor will discuss cancer prevention and screening options such as increased screening with mammograms and MRI imaging, oral contraceptives, chemoprevention medication, and preventive surgery such as mastectomy.

If you have a family history of any of the aforementioned types of cancer, it is important to speak to your physician about genetic testing.  Though the potential results may seem frightening, the results will help your doctor better tailor healthcare to your unique needs and ideally help prevent cancer or provide early detection that can be life-saving.