Not To Be Ignored: BRCA Genes And ‘Silent Killer’ Pancreatic Cancer

(Markus Schreiber/AP)

(Markus Schreiber/AP)

By Dr. Sharon Seibel and Dr. Mache Seibel
Guest Contributors

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.

This differing opinion means many women are not being given the option to be screened for a silent killer.

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]

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  • Dorothy

    This is an interesting thread for me as I have recently tested positive for BRCA1. I have also just been diagnosed with Breast Cancer – just recovery from a mastectomy and plan to undergo other preventative surgeries soon (breast/ovaries). My main concern in all of these is a family history of pancreatic cancer – both my parents died of this disease at ages 59 and 76. I have one other cousin who has dies from pancreatic cancer as well. I am now 45. I have an appointment with genetic counsellor next week, but I am very interested to find out the latest thoughts of the best screening for pancreatic cancer. Breast cancer seems manageable to me compared to pancreatic cancer! Thanks for your assistance.

  • OnlyHuman

    Here is a question. When do women who have tested positive for the BRCA mutation have the chance to live their lives? In between all their tests, doctor visits, false positives, sleepless nights waiting for their test results, and radiation exposure??? NPR needs to do a series of articles on the mental health effects all this “progress” is causing!!!

    There is a fine line between being alarmist and educating. I may have DNA but I am first and foremost a human being.

    • Andrea Ros

      your call, but being BRCA2 and having had advanced metastatic cancer and its accompanying multiple surgeries and deathly treatments (which saved my life,) I am only too happy to be screened for pancreatic cancer. Nothing stands in the way of my living my life, every moment of every day, no matter where I am or what I am going through.

  • Lori

    If a parent had pancreatic cancer, should the children then be tested for the BRCA gene?

    • Mache Seibel, MD

      The chance of a random person getting pancreatic cancer during his or her lifetime is less than 1%. Most pancreatic cancer (90%) is not inherited or genetic and happen sporadically in the population. About 10% of pancreatic cancers are inherited and children of those individuals have a 50% chance of inheriting it. That is called autosomal dominant.

      So unless a person has a family history of pancreatic cancer defined as two or more first-degree relatives (parents, brothers, sisters, children) with the disease, or a strong family history of breast and/or ovarian cancer, they probably don’t have an inherited form of the disease. But when in doubt, the first step is to talk with a genetic counselor as the National Institues of Health estimates that a person with only one first degree relative who has pancreatic cancer increases their risk of developing it 4 to 5 times.

      • Lori

        Thank you for your reply.

      • OnlyHuman

        Your response was not very precise. Do children of pancreatic cancer patients have a 50% chance of inheriting the disease or a 50% chance of inheriting the gene mutation? These are not the same thing.

        • nick

          only 1 in 10 pancreatic cancer patients have the disease due to inheriting an oncogene (such as mutant brca1). First, the parent should be tested to try to determine if an inherited oncogene like brca1 contributed to the development of the pancreatic cancer. It is not clear in your question if that is the case. If yes, than have the children tested. Regardless of child and parent genetics, be mindful of family history of pancreatic cancer.

          To address the questions above, all offspring have 50% chance of inheriting any particular gene from parent. You get 50% of your DNA from mom and dad. So inheriting the mutant gene is like inheriting an estate upon the death of a loved one. You’ll get something but don’t know what that will be until you read the will (get screened for gene mutations in this case).

          Even in the most pronounced cancer syndromes, not every child will suffer the same exact cancers as the parent. Chances of developing cancers are increased, sometimes dramatically so, but rarely absolute. In this case of pancreatic cancer and correlation with inheriting the brca mutation, you will not inherit the disease if you inherit the gene. You will at a 50% chance, inherit something that will ONLY contribute to the chance you will develop that disease over your lifetime.

    • Amy Byer Shainman

      The best first step is to talk to a certified genetic counselor. to find one. Search zip code and specialty cancer. If the parent who had pancreatic cancer was also of Ashkenazi Jewish descent, I can confidently say that a Genetic Counselor is most likely going to want to test the offspring.
      Amy Byer Shainman
      The BRCA Responder
      BRCA1 positive, previvor, BRCA Health Advocate

  • George

    Cut and drug. Drug and cut. Is that really the only solution you can come up with? So she should go have her pancreas remove now too, “just to be safe?”

    • nick a scientist

      Cancer is an unexpected and devastating illness. Three main avenues of treatment are tissue removal (cut), chemotherapy (drug), or radiation. More sophisticated versions of cut, drug, radiation are developed and employed but until we can alter people’s DNA and change the cancer causing versions of these gene (onco-genes) back to the wild-type (normal non cancer causing) state, those are the options.

      • George

        Those are options, but certainly not the only ones, though commonly presented as such. There certainly are other methods to consider.

    • Andrea Ros

      basically as things stand at the moment, you can cut and drug now or you can wait till you get cancer and cut and drug then, and the second option isn’t very fun, trust me.