The Family Connection
Some men and women have a hereditary tendency toward developing various types of cancer due to a genetic mutation.
Given five generations of family history, Jean Stokes of Ozark, clearly was at risk for breast cancer with multiple family members who tested positive for a genetic mutation in genes BRCA 1 and 2 (breast cancer type 1 and type 2).
Jean's mother, grandmother and uncle all developed breast cancer.
At age 73, Jean was diagnosed with breast cancer. Because of the strong family history, her radiation oncologist, Steve Stokes, MD, of Southeast Cancer Center, ordered genetic testing. She tested positive for Hereditary Breast and Ovarian Cancer Syndrome.
Since then, several other family members have also tested positive, including a son, a granddaughter and her first cousin's daughter.
Mutation of good DNA-repairing genes that suppress tumors is a strong indicator of heredity breast and ovarian cancer. The risk of developing breast, ovarian and prostate cancer is greatly increased through inheritance of this mutation. That's the reason Dr. Stokes says families must share the information.
"It's pretty rare to see this many in one family," he said. "I am thinking Jean's grandmother must have been positive as well. They just didn't know."
Though she has always had annual mammograms, Jean said she could have been more proactive. "Nothing has been uncared for. With all this cancer, I didn't connect the dots at all. I just had my regular appointments. If I had the test run and had learned earlier that my risks were higher, I would not have waited a whole year for a mammogram."
In fact, this genetic predisposition was not known by the family until after Jean had surgery, chemotherapy and radiation for cancer in her right breast in 2007.
"My cousin in Atlanta who had cancer has a daughter married to a surgeon. He wanted my cousin tested. She was positive and she passed the mutated gene to her oldest daughter, who also had a mastectomy," she said.
Having her cousin's medical records in hand, Jean was tested. After a positive read, she took her records to her children and grandchildren.
"Having my cousin's paperwork was sufficient for me to go have it done and my paperwork was enough for other family members to have it done. My oldest son is the worrier so he was tested. He is positive. His oldest daughter went to Birmingham a little over a year ago. She was positive and had a double mastectomy and reconstruction.
"My grandmother passed it to my mother, who passed it to me. I passed it to my son, who passed it to his daughter. Dr. Stokes was amazed – there are so many of us with the abnormal mutation."
Jean is overcome with emotion talking about this family legacy.
"I look at them and worry. It's a hard, hard feeling to think that you are the carrier, that you handed that down," she said. "They try not to make me feel that way. I couldn't help it and my mother never knew she had the mutation. I got it from her, but she never knew that.
"Getting tested has made me feel better though, knowing it could save their lives in the long run. They are now aware of it. We have all done really, really well."
Today there is no sign of cancer in Jean. She has taken the drug Arimidex for nearly five years and has a breast MRI and mammogram every six months.
"I take extra precautions. There are several doctors who examine me. I see them all twice a year. There are only two or three months a year when I am not examined," she said.
Jean said she has had enormous support from family and friends, especially the congregation at Ozark Baptist Church and her Agape Sunday school class. Her middle son even shaved his head when his mother lost her hair during treatment.
"There was no way I was not going to be fine," she said. "I had wonderful prayer warriors. People from 10 different states were praying. I turned my cancer over to God. I couldn't do anything about it. I was totally helpless."
Every Saturday in the fall, Jean dons her Alabama wardrobe – shirt, socks, earrings, the works – and settles down with family to watch the Tide. Life as she knows it is certainly changed, but she relishes the time God has given her.
"Cancer is a mean, mean disease. You've got to always be watching out for it. I knew I was in a battle for my life. I fought and I won. No matter how hard it gets, you can beat it. And when you do, there's a new life waiting for you. You will be able to see things differently."
She finds solace in Romans 12:12: "Be joyful in hope, patient in affliction, faithful in prayer."
WHAT YOU CAN DO:
• Have regular mammograms and do self-breast checks. Get involved with Buddy Check 4 by reminding friends to perform their self-breast exam. Visit samc.org to sign up.
• Know your family history.
• If there is a strong family history, talk to your doctor about genetic testing. Through our affiliation with the UAB Cancer Care network, we offer web-based genetic counseling.
MANAGING HEREDITARY BREAST AND OVARIAN CANCER RISKS:
Many patients with the BRCA1 and 2 mutations choose to take preventative action after a positive testing, including surgery, while others limit their risk factors, increase their number of screenings and watchfully wait. You may:
• Perform monthly self-exams starting between the ages of 18 and 21.
• Have annual or semi-annual clinical breast exams starting at 25 to 35.
• Have annual mammograms beginning between the ages of 25 and 35.
• Begin annual or semi-annual ovarian cancer ultrasound and testing between the ages of 25 and 35.
• Drugs such as tamoxifen have been shown to reduce the risk of breast cancer in high risk women.
• Oral contraceptives may reduce the risk of ovarian cancer in women with BRCA 1 or 2 mutations.
• Preventive mastectomy significantly reduces the risk of breast cancer in women with the mutations.
• Preventive removal of the ovaries after child bearing significantly reduces the risk of ovarian cancer and breast cancer in women with the mutations.