By Dr. Sharon Seibel and Dr. Mache Seibel
Angelina Jolie’s decision to undergo a prophylactic double mastectomy to limit her genetic risk for breast cancer demonstrated a lot of courage. It also demonstrates that genetic testing is a real part of disease prevention. But though the discussion she has prompted is helpful, it is not going far enough.
Although the “BRCA” type of gene she inherited is named for BReast CAncer, mutations in those genes also affect other organs, particularly the ovaries. Your lifetime risk for ovarian cancer increases from about 1.5% to Jolie’s estimated risk of about 50%.
But nobody is talking about the increased risk of other cancers that BRCA mutations cause, such as the “silent killer,” pancreatic cancer.
They should. Sharon, who is BRCA2-positive, was diagnosed with it a year ago, and we believe more BRCA-positive women can — and should — be screened for pancreatic cancer.
Sharon has a strong family history for ovarian cancer: Her great grandmother, grandmother and aunt died young from it. Sharon grew up with the belief that she would suffer a similar fate.
Until she read an article over ten years ago discussing the BRCA1 and 2 genes. It was the first study reporting that women with BRCA1 and BRCA2 genes could reduce their risk of breast and ovary cancer by 75% by having their tubes and ovaries removed. We arranged for genetic testing, and Sharon tested positive for BRCA2.
While the positive results brought on a sinking feeling initially, relief followed, because there was something that could be done to potentially alter destiny and avoid ovarian cancer. A month later, Sharon underwent surgery to have her tubes and ovaries removed.
Sharon also contacted the rest of her extended family and urged them to get tested. Because of the association of BRCA2 with breast cancer, Sharon began breast cancer screening every six months with a breast MRI alternating with mammograms.
It seemed everything was covered; the tubes and ovaries were surgically removed and breast testing was being done regularly. But then came the elephant in the room: pancreatic cancer.
It was absolutely unanticipated. Although we’d been told pancreatic cancer was associated with BRCA1 and 2, most doctors who talked with us and most lecturers at meetings minimized the risk and were more focused on breasts and ovaries than on the pancreas.
The party line has been that there’s no good way to screen for pancreatic cancer anyway. But when the “minimal risk” (4 – 8% over a lifetime according to Endocrinology and Metabolism Clinics of North America) became 100 percent, it did not seem so minimal.
Pancreatic cancer is potentially a more lethal disease than breast cancer. After all the breast screening and prophylactic surgery, it just seemed impossible,
It’s now a year later, and having successfully gone through proton beam radiation, surgery and chemotherapy, we want others with the BRCA genes to at least know that there is a real possibility of pancreatic cancer.
There is ever-evolving scientific evidence surrounding screening for it. Testing is now available with ultrasound-guided endoscopy and radiology scans.
If caught early, pancreatic cancer can be treated successfully. Although one doctor Mache spoke with recently said that she sends all her BRCA patients for pancreatic screening, another prominent expert thought the risk/reward ratio for screening did not warrant it at this time.
This differing opinion means many women are not being given the option to be screened for a silent killer.
This philosophy needs to change. Angelina Jolie has done a great service by increasing awareness for BRCA genetic testing if there is a strong family history of breast and/or ovarian cancer.
Our goal it to take it one step further and raise awareness for pancreatic cancer screening in those who test positive for BRCA1 or 2. The risk is real and the testing is now available in selected centers.
Dr. Mache Seibel is editor and Dr. Sharon Seibel is assistant editor of My Menopause Magazine, based in Newton, Mass. Dr. Mache Seibel is a professor at the University of Massachusetts Medical School with a focus on menopause and mental health.
[Posted by Carey Goldberg]