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Choosing to reduce risk

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Less than 50 years ago, the word “cancer” was seldom spoken; and, when it was, it was only whispered. Historically, if someone was diagnosed with cancer, it was viewed as a “curse” that led to a certain death sentence; some even viewed the diagnosis as a judgment against a person’s character.

In September 1974, the subject of breast cancer was thrust under the spotlight when—after only one month as First Lady– Betty Ford announced that she would undergo radical mastectomy surgery. She has said she went public to let women know that breast cancer is a health issue, not an embarrassing topic. 

Fast forward to May 2013, and Angelina Jolie– an internationally-known humanitarian and Academy Award-winning actress– announced in the New York Times that she’s had a double mastectomy to be followed by removal of her ovaries based on her family history of breast cancer and the results of genetic testing for BRCA mutations.

In Flower Mound, Brandi Valor completely understood Jolie’s announcement. In November 2012, the 38-year old wife and mother underwent those procedures based on her own family medical history and subsequent genetic test results.

“I have a strong family history of breast cancer, both sides,” said Valor. “My paternal grandmother had breast cancer and my cousin is battling it; for her it’s terminal. When my mom was diagnosed with Stage 3 ovarian cancer it was time for genetic testing.”

Valor’s mother is now in remission, but her aunt died following two battles with cancer.

“I’d started having mammograms when I was 35, but I took a copy of my mom’s genetic testing to my OB/GYN and then had my testing done,” she said. “Normally, the test is not covered by insurance—my company didn’t cover it—and it costs over $4,000. However, given my family history and my mom’s test result for the BRCA mutations, the Myriad company who owns the only test available put a $375 cap for me to have their test.”

The Myriad patents will begin to expire in 2014, which will impact both the options for testing and the cost associated with additional options.

The symbol BRCA stands for BReast CAncer, referring to two genes (designated BRCA1 and BRCA2) that help repair damage to DNA. Women who have inherited a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high (and seem so selective) that many mutation carriers—like Jolie and Valor– choose to have prophylactic surgery.

“I’d actually seen a magazine cover story on general genetic testing which had a hotline phone number that I called for more information,” said Valor. “Still, I hesitated to get tested thinking that I probably wouldn’t do anything radical, even if the BRCA results came back positive.”

When her test did come back positive, she consulted Dr. Laura Panos, a genetic counselor at the Baylor Sammons Cancer Center in Dallas, which performs about 500 tests for BRCA mutations each year; with about one in 13 tests being positive.

“Because my breast tissue was still healthy, I took my time to meet with different surgeons and research different options available,” said Valor. “The results and reconstruction options are so improved when there’s no cancer involved.”

Her decision to have surgery was based on the same reason Jolie cited—increasing the probability she’ll be alive for her young children.

“I was fortunate that, because my breasts had no cancer cells at that time, the mastectomies involved removing only the potentially cancer-prone tissue inside,” said Valor. “It allowed me to keep my nipples, skin and underlying muscles. I was also able to have DIEP-flap reconstruction surgery, meaning my own stomach tissue was used to fill-in, rather than having to have artificial implants and the possible risks associated with them.”

Valor’s decision to have a hysterectomy and remove her ovaries was a much quicker process.

“My OB/GYN did an internal sonogram and found a cyst, in addition to elevated results of a CA125 test,” she said. “I told my doctor, ‘just get it out,’ and I had surgery three weeks later.”

Valor said that her husband’s 100-percent support helped her reach the decisions she made for herself and her family.

“The peace-of-mind that I know I don’t need to worry about the possibility that I’ll get either breast or ovarian cancer in 10 years—when my daughters will be 19 and 17 and in their college years—well, that peace is irreplaceable.”

Valor has five sisters and a brother. So far, one sister has had BRCA genetic testing and it was negative.

“Genetic BRCA testing is not recommended for anyone under 18,” said Valor. “My daughters won’t be that old, at the youngest, for 10 years. Who knows what medical advancements will happen by then. Besides, it should be their decision, not anyone else’s.”

“I encourage women to talk to their doctors about their family history and any indicators they may have,” said Valor. “Some people are against genetic testing, but I think that if God didn’t want us to know how to take care of our own health, the tests wouldn’t exist.”

Breast cancer is no longer an automatic death sentence. Just as the reaction to the word “cancer” has changed dramatically in the past 50 years, so has the progress in the ability to treat and prevent the disease.

Breast Cancer Genetic Testing

The global search for a genetic basis for breast and ovarian cancer began in laboratories worldwide in 1988.

BRCA1 is a human caretaker gene– linked to the long arm of chromosome 17– that produces a protein called breast cancer type 1 susceptibility protein, which is responsible for repairing DNA. If BRCA1 itself is damaged, the damaged DNA is not repaired properly and this increases risks for cancers.

The first evidence for the existence of the gene was provided by the Mary-Claire King laboratory at University of California-Berkeley in 1990. Four years later, the gene was cloned by scientists at the University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics.

BRCA2 (breast cancer type 2 susceptibility protein) is a protein found inside cells. In humans it is encoded by the gene BRCA2, which belongs to the tumor suppressor gene family. The protein encoded by this gene is involved in the repair of chromosomal damage and is located on the long (q) arm of chromosome 13.

Certain variations of the BRCA2 gene increase risks for breast cancer as part of a hereditary breast-ovarian cancer syndrome. A striking example of a founder mutation is found in Iceland, where a single BRCA2 (999del5) mutation accounts for virtually all breast/ovarian cancer families in the country.

The first BRCA2 patent was filed in the U.S. by Myriad and its related institutions in 1995. Myriad is the exclusive licensee of these patents and has enforced them in the United States against clinical diagnostic labs. The patents begin to expire in 2014.

In 1996, Myriad launched their BRACAnalysis product, which detects certain mutations in the BRCA1 and BRCA2 genes putting women at high risk for breast cancer and ovarian cancer.

As the owner of the exclusive test, Myriad went from being a startup in 1994 to being a publicly traded company with 1200 employees and about $500M in annual revenue in 2012. It also led to controversy over high prices and the inability to get second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.

Association for Molecular Pathology v. Myriad Genetics is a case challenging the validity of gene patents in the United States, specifically challenging certain claims in issued patents owned or controlled by Myriad
Genetics that cover isolated DNA sequences, methods to diagnose propensity to cancer by looking for mutated DNA sequences, and methods to identify drugs using isolated DNA sequences.

The case was originally heard in the United States District Court for the Southern District of New York, which ruled that all the challenged claims were not patent eligible.

Myriad then appealed to the United States Court of Appeals for the Federal Circuit. The Circuit court overturned the previous decision in part, ruling that isolated DNA (which does not exist alone in nature) can be patented and that the drug screening claims were valid, and confirmed in part, finding the diagnostic claims not patentable.

The plaintiffs appealed to the Supreme Court, which granted cert and remanded the case back to the Federal Circuit. The Federal Circuit did not change its opinion, so on September 25, 2012, the American Civil Liberties Union and the Public Patent Foundation filed a petition for certiorari with the Supreme Court with respect to the second Federal Circuit Decision.

Proponents of the validity of these patents argue that they incentivize investment in biotechnology and promote innovation in genetic research by not keeping technology shrouded in secrecy. Opponents argued that these patents stifle innovation by preventing others from conducting cancer research, limit options for cancer patients in seeking genetic testing, and are not valid because they claim to patent genetic information that is intrinsic to all humans.

The first of Myriad’s patents begin to expire in 2014.

 

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