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Genetic Screening Program

In every family, certain traits are shared and passed on from one generation to the next.  Most obvious are physical traits such as eye or hair color.  Less obvious are inherited genetic traits that control the tendency to develop specific diseases, such as certain cancers.  You don’t actually inherit the disease, but rather you inherit a higher risk of developing it. 

Family history plays an important role in cancer risk. While you may wonder “What’s the value of knowing I may inherit a particular cancer?,” genetic screening allows patients to choose risk reduction options if they are predisposed to developing cancer.

Even if there is a pattern of certain cancers in your family, cancer does not have to be inevitable.  You may benefit from learning more about your own risk. Current cancer research shows that early detection, along with proactive medical care, has been proven to help reduce cancer risk and save lives.

There are a variety of cancers for which genetic screening, done through a blood test, are now available.  Among them are colorectal cancer, breast cancer, ovarian cancer, melanoma and other less common cancers. 

Colorectal Cancer

Some colon and rectal (colorectal) cancers are hereditary – caused by a damaged gene that is passed from parent to child. One such condition is Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC).  In people with Lynch Syndrome a mutation in one of three genes (MLH1, MSH2 or MSH6) may allow the formation of adenoma polyps, small precancerous growths of tissue that can become cancerous more quickly than expected.

Families with Lynch Syndrome usually have two or more members who develop colorectal cancer and or endometrial (uterine) cancer before age 50.  Lynch Syndrome also increases the risk for developing other cancers such as ovarian, stomach, kidney/urinary tract, brain biliary tract, pancreatic and small bowel.

If you carry a Lynch Syndrome gene mutation, you have up to an 82% risk of developing colorectal cancer by age 70 and, for women, up to a 71% risk of developing endometrial cancer by age 70.

Among the preventive measures are increased screening to monitor development of polyps and, in some cases, surgical removal of the colon (colectomy).

Breast & Ovarian Cancer

About 10% of breast and ovarian cancers are hereditary – due to a mutated (altered) gene passed on from parent to child.  Two specific genes called BRCA1 and BRCA2 play a significant role in preventing breast and ovarian cancers.  When mutations occur in these genes, certain groups of cells can grow at an abnormally fast rate and cancer may develop. If either parent carries a BRCA1 or BRCA2 mutation, you may carry it, too.

You could have an inherited risk for breast and/or ovarian cancer if you have close family members on either mother’s or father’s side who were diagnosed with breast cancer before the age of 50, ovarian cancer at any age, or male breast cancer at any age … or if you were diagnosed with breast cancer before age 50 and/or ovarian cancer at any age.

Important Facts 

• Women with a BRCA mutation have a 33%-50% risk of developing breast cancer by age 50 and a 56%-87% risk by age 70.
• Women with a BRCA mutation have a 27%-44% chance of developing ovarian cancer by age 70.
• Certain mutations of the BRCA genes are more common among people of Ashkenazi Jewish descent (Central or Eastern European).
• Half of all women with a hereditary risk of breast and ovarian cancers inherited the risk from their fathers, not their mothers.
• BRCA mutations also increase the risk for other cancers in both men and women, including up to a 6% risk for male breast cancer.
• For those who have breast or ovarian cancer, having a BRCA1 or BRCA2 gene mutation could mean a higher risk for developing a second cancer.

Test for Hereditary Breast and Ovarian Cancer

The hereditary breast cancer test is not like a mammogram.  It is specifically for individuals thought to be at high risk of breast or ovarian cancer.  It consists of a blood test that detects mutations in the genetic code of BRCA1 and BRCA2.  Only a small blood sample is taken for analysis. 

The test does not tell you whether you have cancer; it estimates your risk for breast or ovarian cancer so a personalized cancer risk reduction plan can be developed for you, which could include increased surveillance, including breast MRI plus mammography for breast cancer and transvaginal ultrasound plus CA-125 blood test for ovarian cancer, preventive drug therapy and/or preventive surgery.

The Hereditary Cancer Program at the Comprehensive Cancer Center at Wake Forest Baptist Medical Center offers a program that will help determine your risk level.  Before testing even begins, you will meet with a nurse counselor to do a comprehensive evaluation of your family history.  If your family history indicates that the cancers are likely hereditary in nature, genetic testing can be discussed and arranged.

Knowing your risk – and doing everything you can to lower it – could make a big difference for you, your family, and for your future health care choices. Today, many health insurance plans pay for assessment programs.  Now is the time to ask your health care provider about hereditary cancer risk assessment and testing, and how it can benefit you.

Enrollment begins with a simple phone call.  If you decide to participate in the program, a risk assessment form will be mailed to you to complete.  Once we’ve received the form and analyzed the information, we will call you to schedule a counseling session.  If you are concerned about your chances of developing breast or ovarian cancer and want to take steps to reduce risks and increase chances for early detection, contact us today.