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Dani Casper was just 29 when she was diagnosed with breast cancer. A newlywed of just five months, she was not only stunned that the lump she found on self-exam was cancerous; she also wanted to know how it could happen.
“I kept asking myself, what had I done? I don’t smoke and I lead a pretty healthy lifestyle. It just seemed improbable.”
Improbable until Casper was tested for the breast cancer (BRCA) gene mutations.
“I tested positive for a breast cancer gene mutation and then it all made sense. I didn’t do anything, it’s just who I am. With that, I was able to move from “why” to what to do about it.”
According to the National Comprehensive Cancer Network, these genetic mutations, called BRCA 1 and BRCA 2, cause affected women to have a 56-87% risk of developing breast cancer in their lifetime. They are three-to-seven times more likely to develop breast cancer than women without the genetic mutations. Additionally, while 2% of women in the general population will develop ovarian cancer, women who carry the BRCA genes are 27-44% likely to develop ovarian cancer. Both women and men who have the BRCA genes are at increased risk of developing breast cancer, pancreatic cancer, melanoma, and ovarian cancer in women and prostate cancer in men.
Casper went on to have a bilateral mastectomy (because she was at increased risk of developing breast cancer in her other breast) and chemotherapy. She notified her family of her genetic status and advised them to get tested. Because Casper would like to have children, she has put off having her ovaries removed and is in an increased surveillance program for ovarian cancer. Now, four years later, she and her husband are preparing to start a family.
“I’m so grateful for this test,” says Casper. “It told me how the cancer happened. That removed my anxiety so I could concentrate on fighting the cancer.”
Jennifer Ahearn, who has never had breast or ovarian cancer, elected to have a total hysterectomy (removal of her ovaries, fallopian tubes and uterus) after she tested positive for a BRCA gene mutation following her sister’s breast cancer diagnosis and positive BRCA test result.
“When my sister told me that she had breast cancer and the gene mutation for breast cancer, I got tested. When my results were positive and the nurse practitioner explained to me my risk of developing cancer, it was a no-brainer. I had the hysterectomy.”
Ahearn has two children, so family planning did not complicate her decision. However, she has elected not to have a mastectomy but has either a diagnostic mammogram or MRI with contrast every three months.
Both Casper and Ahearn were educated about hereditary breast and ovarian cancers and the BRCA gene mutations through the Texas Oncology Hereditary Cancer Risk Assessment Program. This comprehensive program, staffed by practitioners (not genetic counselors) with advanced training in hereditary cancers and their treatments, offers counseling, genetic cancer screening tests and helps individuals evaluate their options for surveillance, treatment and surgery.
“The Hereditary Cancer Risk Assessment Program is very good at giving individuals the information they need to manage their cancer risk,” says John Sandbach, MD, a medical oncologist at Texas Oncology. “We know that people who test positive for the breast and ovarian cancer gene mutations have a 10-fold risk for developing cancer – either a primary cancer or secondary cancer subsequent to their initial diagnosis. But it’s not for everyone. Not everyone needs cancer screening.”
People who should be tested for hereditary breast and ovarian cancer genetic mutations are people with:
• Breast cancer before age 50
• Ovarian cancer at any age
• Male breast cancer at any age
• Multiple primary cancers
• Ashkenazi Jewish ancestry
• Relatives of BRCA mutation carriers
“The initial test is expensive for the affected individual, about $3200,” says Sandbach. “But once we know the type of genetic mutation that individual has, we target testing for that particular mutation in the other family members. This is much simpler and much less expensive testing since we know exactly what we are looking for.” Sandbach also points out that sometimes a family may have all the indicators of hereditary breast and ovarian cancer yet test negative for the known BRCA gene mutations.
“Researchers understand there may be other genetic mutations that cause cancer yet to be discovered. So families as described above are still considered at risk and we still educate them about surveillance and review with them their options for preventive treatment and risk reduction.”
Lisa Sailer, NP, is a nurse practitioner with Texas Oncology who has extensive training and experience in hereditary breast cancer risk assessment.
“There are so many factors to consider when trying to assess risk and to determine a course of action,” says Sailer. “How we approach a young premenopausal woman who may not have children is very different from how we approach a post menopausal woman.”
Ahearn wondered when to have her daughters (now three and four years old) tested. Sailer offered this advice:
“A young woman should be at least 18 years old when she is tested and receive appropriate counseling beforehand. We would recommend clinical breast examinations by a clinician every six months and increased surveillance such as diagnostic (not screening) mammograms and periodic breast MRI’s for breast cancer starting at age 25 every six months. Surveillance for ovarian cancer would include pelvic exams with transvaginal ultrasonography and screening for the tumor marker Ca125 every six months.
Both Sandbach and Sailer advise women with questions to first speak with their primary physicians. If after speaking with a primary physician, a patient is still unsure of her cancer risk, she may set up a consultation with the Hereditary Cancer Risk Assessment Program to review her health and family history and to see if she is an appropriate candidate for genetic cancer screening.
It all seems scary, but as Ahearn and Casper both stated, knowledge is power.
“Once I knew what I had, I knew how to fight,” says Casper. “I didn’t feel like a victim, I actually felt empowered.”
And for women who don’t have breast or ovarian cancer and receive a positive result, Sailer offers this perspective, “You’re no different than you were one day ago. Now we just know more about you and how we may help you.”
Men and Women should be tested for
Hereditary Breast and Ovarian Cancer If:
• Breast Cancer Before Age 50
• Ovarian Cancer at any age
• Male Breast Cancer at any age
• Multiple Primary Cancers
• Ashkenazi Jewish Ancestry
• Relatives of a BRCA mutation carrier
The Hereditary Cancer Risk Assessment Program at Texas Oncology
The Hereditary Cancer Risk Assessment Program at Texas Oncology in Austin was implemented in 2004 and provides an in-depth cancer risk assessment for individuals with a strong personal and/or family history of cancer.
www.TexasOncology.com
888.864.ICAN
The BRACAnalysis® test can only be ordered by qualified health care providers. The most important thing you can do if you suspect that you may have a genetic predisposition to cancer is to speak with qualified health care providers with whom you feel comfortable and who can help you assess your risk and order genetic testing if needed. There are healthcare providers nationwide who can help you know your risk and determine whether genetic testing is right for you.
To find a provider visit
www.bracnow.com/find-provider/index.php