From Sarah Mancini, MSN, APRN, OHC Advanced Practice Provider and Cancer Genetic Specialist
November 15, 2022
Perhaps you are aware of a family member or two who has breast cancer and you’re wondering if there is a genetic connection. You might think you’re at high risk for the disease or question if you should consider genetic testing.
Only a small fraction of breast cancer cases, about 10 percent, are considered hereditary. These cases are typically caused by a gene that has mutated (changed) and been passed down to you. To better understand your risk for developing hereditary breast cancer, it helps to better understand genes and the role they play in the development of the disease.
What Are Genes?
All the cells in our bodies contain genes. Genes contain the blueprints that determine which traits are passed down from a mother and father to their child. Genes control traits like eye color and height. All of us inherit one set of genes from our mother and one set from our father.
Genes and Cancer
Cancer is caused by the uncontrolled or abnormal growth of cells resulting from a mistake, or mutation, in a gene. There are two types of gene mutations:
- Inherited- Mutations passed down from parent to child. Someone with a genetic mutation has about a 50 percent chance of passing that trait to his/her children.
- Somatic- Mutations resulting from the aging process or exposure to chemicals in the environment.
Mutations are rare and not all of them are harmful. An inherited gene mutation does not always cause cancer.
Hereditary Breast Cancer
Hereditary breast cancer occurs when a gene that normally helps prevent cancer does not function properly. The BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two) genes are the two genes that science currently recognizes as most associated with increased breast cancer risk.
According to breastcancer.org, women who have the BRCA1 or BRCA2 mutation (or both) can have up to a 72 percent risk of being diagnosed with breast cancer during their lifetimes. Men with a BRCA2 mutation have about an 80 times greater risk than average of getting breast cancer than men who do not have the mutation. Hereditary breast cancers usually develop earlier in life than breast cancers that are not inherited.
Those with mutated BRCA1 or BRCA2 genes have a higher risk of a second primary breast cancer, meaning breast cancer in the same breast after breast-conserving surgery or, more commonly, in the other breast. In women, these mutations also increase ovarian, fallopian tube, peritoneal, and pancreatic cancer risk. Men with the mutations are at higher risk for prostate cancer.
Other genes that may play a role in increasing breast cancer risk include ATM, BARD1, CDH1, NF1, PTEN, RAD51C, RAD51D, STK11, and TP53.
Genetic Testing to Determine Cancer Risk
A genetic test for cancer is a blood test or saliva swab to check for any cancer genes that have been passed down in the family. Genetic testing may be recommended if you or one of your family members (on either side of the family) meet one of the following criteria:
- Breast cancer diagnosis before age 45.
- A woman diagnosed with triple-negative breast cancer.
- A male in the family diagnosed with breast cancer at any age.
- A female in the family diagnosed with ovarian cancer at any age.
- Ashkenazi Jewish heritage along with any cancer in your family.
- Strong family history of multiple cancers including breast cancer, pancreatic cancer, ovarian cancer, or aggressive prostate cancer.
Who Do I Speak With to Determine if Genetic Testing and Counseling Are Right For Me?
- It is important to discuss your cancer family history with your primary care doctor, gynecologist, or another healthcare provider. They can help guide you.
- OHC’s cancer genetic specialists are specially trained and have experience in high-risk preventative care. We provide genetic counseling and testing for people who may be at risk for a hereditary cancer syndrome through our Genetic Risk Evaluation and Testing Program (GREAT). Individuals do not have to be OHC patients to request a consultation.
Counseling involves evaluating a patient’s unique family and medical history to determine cancer risk and make a recommendation for testing. It is important to know as much medical information from both sides of your family. Choosing to have genetic testing is an individual decision. Some people prefer not to know.
OHC typically receives genetic testing results after a couple of weeks. Armed with results, we can work with our team of breast surgical oncologists in our high-risk clinic to help you formulate a plan of action including screening recommendations, lifestyle changes, and/or a risk-reducing mastectomy to remove one or both breasts. We will also explain how results have the potential to affect your family members.
OHC will assist with the insurance pre-authorization for your testing. If it is determined that your testing is not covered by insurance, our lab partners offer a discounted rate for adult cancer genetic testing requested by an individual.
My OHC colleagues and I believe that genetic risk evaluation is a critical component of quality cancer care and prevention. Genetic risk evaluation can ultimately lead to fewer cancer diagnoses, and cancer discovered in its earlier stages typically has better treatment outcomes. To request an appointment with an OHC cancer genetic specialist or breast surgical oncologist, call 1-888-649-4800 or visit https://ohcare.com/condition/breast-cancer/genetics/.
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