Genetic Testing Is a Helpful Tool for Cancer Patients
- TV personality Sharon Osbourne, 71, learned she was a carrier of the BRCA1 gene mutation, which increases your risk for breast and ovarian cancer, a decade after being diagnosed with colon cancer. She urged her children to get tested for the BRCA gene to assess their cancer risk.
- Genetic tests can be as simple as a simple saliva swab or blood sample. The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer. The results help doctors tailor your treatment and are helpful for breast cancer patients.
- Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1 and BRCA2 testing (gene mutations that elevate cancer risk) or a more comprehensive gene panel that might include 15-25 genes.
- Osbourne underwent a prophylactic, or preventative, mastectomy, which is an operation where the breast tissue is removed to prevent cancer from developing in the future.
- Genetic counselors help patients better understand the results of genetic testing. Patients should ask their care team for a counselor if they’ve undergone genetic testing.
Sharon Osbourne, 71, the wife of her famous “Black Sabbath” husband, Ozzy Osbourne, 75, is more than a popular TV personality; she’s also a cancer survivor. She managed to beat colon cancer, and after learning her risk for breast and ovarian cancer, she took preventative measures to reduce her risk further.
Osbourne underwent genetic testing to learn she was a carrier of the BRCA gene mutation, which elevated her cancer risk. Furthermore, this gene is inherited, meaning she likely gave it to her children.
“As soon as I found out I had the breast cancer gene, I thought: ‘The odds are not in my favor,” Sharon said before choosing to get a preventative double mastectomy.
How Genetic Testing Helps Cancer Patients
- Genetic Testing Can Empower You With Important Information
- Genetic Testing Can Help Guide Ovarian Cancer Treatment Decisions
- Considering Genetic Testing? Talk to Family if You Can
- Genetic Testing For Breast Cancer Can Be Life-Saving For Some: For Others, It Only Causes Confusion and Stress
- Getting Genetic Testing for Your Kids — a Tough, but Crucial Call
Which Gene Mutations Are Important to Look for in Breast Cancer?
Dr. Julie R. Gralow, the Chief Medical officer and the Executive Vice President of the American Society of Clinical Oncology, tells SurvivorNet that “Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1/2 testing or a more comprehensive gene panel that might include 15-25 genes.”
Related: Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean?
The infamous BRCA1 and BRCA2 gene changes are still the most important ones to look for in breast cancer. Together, they are responsible for about half of all hereditary breast cancers. These genes prevent cells from dividing haphazardly and uncontrollably in a person without mutations. Mutations prevent these genes from doing their job and can allow unchecked growth of breast, ovarian, and other tissues. This voracious growth paves the path for cancer development.
BRCA1 and BRCA2 gene mutations increase the risk of developing breast cancer by up to 85% during their lifetime. To break it down, only 13% of all women will develop breast cancer during their lifetimes. If they carry the mutations, their risk increases to 45%-72%, depending upon their exact mutation.
The presence of such mutations can have a significant impact on the treatment options for women carrying them. “Presence of a BRCA1/2 gene mutation (or others associated with high risk) may impact surgical decision-making in a patient who is newly diagnosed with breast cancer,” says Dr. Gralow. “It should not really impact treatment of the current cancer (eligibility for lumpectomy versus mastectomy), but the presence of such a mutation carries a very high risk of developing a second breast cancer, so bilateral mastectomy is a reasonable consideration to reduce the risk of second cancer.”
Research has also identified other mutations that may increase the risk of breast cancer. These include changes in PALB2, ATM, CHEK2, KRAS, CDH1, TP53, PTEN, and numerous other genes. Modern genetic testing panels can look for mutations in more than 80 genes simultaneously.
Where can you get help after undergoing genetic testing?
“If someone gets a genetic test result back, it’s really important for them to know what this is. (What does this) mean for them? Put it into context,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously explained to SurvivorNet.
Genetic counselors help patients during this critical phase of understanding.
“What does it mean for their family members? For their relatives? Genetic counseling to follow up genetic testing is a really, really important part of the whole process and is not always available in the direct-to-consumer type avenue.”
According to the U.S. Centers for Disease Control and Prevention, your doctor can refer you for genetic counseling based on your personal and family health history.
Sharon’s Cancer Battle
As previously noted, Sharon Osbourne was diagnosed with stage 3 colon cancer in 2002. During stage 3, the cancer has spread beyond the colon.
The most poignant signature of colon cancer is a change in bowel habits. Changes in the size or shape of bowel movements may cause constipation or diarrhea. A change in stool color, mainly black or tarry stools, can indicate bleeding from a tumor deep in the colon.
WATCH: Colon cancer symptoms.
Other symptoms can be harder to pinpoint, such as abdominal pain and unintentional weight loss. Finally, some tumors bleed a small amount over a long period of time, resulting in anemia (low red blood cell count) that is picked up on blood work.
For treatment, Sharon underwent surgery to remove a foot of the large intestine and some surrounding lymph nodes. She needed chemotherapy to kill any cancerous cells left behind. With a powerful support group full of loved ones, she was able to overcome the cancer and beat it.
Osbourne also underwent a preventable double mastectomy, a procedure where breast tissue is removed to prevent cancer from developing in the future. She opted for the procedure after learning she had a genetic mutation that increased her chances of developing breast cancer.
WATCH: Understanding preventative mastectomies.
RELATED: Is a Preventative Mastectomy Right for Me?
A prophylactic, or preventative, mastectomy is an operation where the breast tissue is removed to prevent cancer from developing in the future.
“A double mastectomy typically takes about two hours for the cancer part of the operation, the removing of the tissue,” Dr. Elisa Port, Chief of Breast Surgery at Mount Sinai Health System, tells SurvivorNet. “The real length, the total length of the surgery, can often depend on what type of reconstruction [a patient] has.”
Other factors that weigh into the decision to get a mastectomy are the size and features of the tumor and your family history. However, the gravity of your decision comes into full view, especially if you choose to get a mastectomy and remove both of your breasts.
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