BRCA

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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. Continue reading

Angelina Jolie’s Double Mastectomy: How Times Have Changed

(Alastair Grant/AP)

(Alastair Grant/AP)

About five years ago a close friend of mine had a prophylactic double mastectomy to lower her extremely high genetic risk of developing breast cancer, which had killed her mother. She begged me to keep the operations a secret: she didn’t want to worry her two young daughters.

Today, in a New York Times opinion piece that is about as out-there and open as it gets, 37-year-old actress and activist Angelina Jolie, who carries the BRCA1 gene which greatly elevates her risk of breast and ovarian cancer, writes that she recently had her breasts surgically removed to lower that risk.

On April 27, I finished the three months of medical procedures that the mastectomies involved. During that time I have been able to keep this private and to carry on with my work.

But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.

My own process began on Feb. 2 with a procedure known as a “nipple delay,” which rules out disease in the breast ducts behind the nipple and draws extra blood flow to the area. This causes some pain and a lot of bruising, but it increases the chance of saving the nipple.

Two weeks later I had the major surgery, where the breast tissue is removed and temporary fillers are put in place. The operation can take eight hours. You wake up with drain tubes and expanders in your breasts. It does feel like a scene out of a science-fiction film. But days after surgery you can be back to a normal life.

Nine weeks later, the final surgery is completed with the reconstruction of the breasts with an implant. There have been many advances in this procedure in the last few years, and the results can be beautiful.

I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am very happy that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don’t need to fear they will lose me to breast cancer.

Jolie’s mother died of cancer at age 56 and Jolie writes that she didn’t want to put her own kids through that kind of pain if possible. That this highly public figure offers such intimate details about her body and her breasts may be a sign that the taboos around cancer are dwindling. (“On a personal note,” Jolie writes, “I do not feel any less of a woman. I feel empowered that I made a strong choice that in no way diminishes my femininity.”)

Sharon Bober, a clinical psychologist and director of the Dana-Farber Cancer Institute’s Sexual Health Program, who counsels many women who have had similar surgeries, said in an email that Jolie’s honesty is truly refreshing:

Wow!

One thing that strikes me is how times have changed – not that many years ago BRCA carriers would be worried about insurance being dropped, stigma, judgement, (“you are removing healthy breasts?? What are you crazy??”) and now this too is out of the closet. Continue reading

Opinion: Why Our Genes Should Not Be Patented

Catherine Corman and her father are both BRCA carriers. (Courtesy of Catherine Corman)

Catherine Corman and her father are both BRCA carriers. (Courtesy of Catherine Corman)

By Cathy Corman
Guest Blogger

My father had a radical mastectomy in 1975.

He’d visited a general surgeon to check an eraser-sized lump he’d noticed in his left “breast,” which turned out to be malignant. Researchers in the 1980s pinpointed two kinds of genetic mutations that dramatically increase the odds of developing breast and ovarian cancer. They named these mutations BRCA 1 and 2.

By 1996, Myriad Genetics, a company in Utah, was offering a test that could identify people with BRCA mutations. I strong-armed my father into taking the test and held my breath as we waited for results. We learned that we are both BRCA carriers. For my dad, the result was retrospectively predictive. He had the mutation and developed breast cancer. For me, a healthy 37-year-old mother of young triplets, the implications weren’t so clear. I weighed my options and rolled the dice. By the fall of 1998, I’d had elective surgery to remove my thus-far cancer-free breasts and ovaries.

Along with the rest of the nation, I was on pins and needles last week listening to arguments in front of the Supreme Court about the constitutionality of “Obamacare.” I was also holding my breath, waiting for the decision the justices delivered last week concerning a challenge to Myriad’s monopoly on BRCA DNA and BRCA testing. Researchers, geneticists, and the American Civil Liberties Union asked justices on the Supreme Court to reconsider an appellate court’s ruling that upheld Myriad’s patent of the genetic material. The justices sent the case back to the appellate court and asked it to revisit its decision in light of a related case. This might bring good news or bad for those of us carrying BRCA mutations, but, in any case, the implications of the decision will reach far beyond the small number of us genetically predisposed to reproductive cancers.

Families with histories of any number of inherited diseases — from heart failure to diabetes to mental illness to autoimmune disorders – will increasingly share their DNA with researchers looking for genetic clues. If companies can patent our DNA as Myriad has done, they can, under current law, prevent us from receiving affordable testing and innovative, effective treatments for diseases that have the potential to take our lives. Continue reading