“Oh, how very modern of her. So what’s new?” laughs Laura, 43, about Angelina Jolie’s recent announcement that she has had a double mastectomy due to her high risk of developing breast cancer.
Laura knows what she is talking about. She, too, has a genetic risk of developing breast and ovarian tumors. So does Paqui, and sisters Julia and Amparo. Well before the world famous actress took the step, all of these women had preventive surgery — either full (both breasts and ovaries) or partial — to combat cancer before it had a chance to develop (or not, since no matter how high the risk, there is no absolute certainty).
Each one of these women made different choices, according to their personal preferences and the moment in life when they learned about their condition.
The four women recently talked with EL PAÍS about their experiences at the genetic counseling unit of Valencia’s Hospital Clínico, one of six centers in the Valencian region that offers information and advice on hereditary cancer (a very rare occurrence that only represents five to 10 percent of all cases). Around 60 percent of visits to this center have to do with breast or ovarian cancer.
The first step is always diagnosing the tumor. If the patient’s family history and medical records show precedents, alarms go off and doctors begin to suspect a hereditary factor. A genetic analysis may be conducted to find the origin of the disease and alert other relatives.
This is what happened to Laura. Her mother died of breast cancer at the age of 54. An aunt developed a tumor in one breast, then in the other. Another aunt died at 47 of an ovarian neoplasm. A third aunt also had breast and ovarian cancer. So much misfortune could not be a coincidence. And it wasn’t.
The case was referred to Valencia’s Clínico, which ran a genetic analysis on one of Laura’s aunts in 2006. The results showed a mutation in a gene called BRCA2, which Laura’s mother and aunts had inherited from their own mother — who also had breast cancer. And Laura carried the mutation as well. It was a case study of hereditary cancer.
Angelina Jolie carries a mutation on a gene known as BRCA1 (as in Breast Cancer 1). Laura’s is on BRCA2. These are the most common alterations connected to breast and ovarian cancers.
The first mutation carries with it a 50-to-80 percent chance of developing breast cancer at one point and a 13-to-23 percent risk of ovarian cancer, says Isabel Chirivella, the head of the genetic counseling unit at the Valencian hospital. As for BRCA2, the risk ranges between 55 and 85 percent for breast cancer and 35 to 46 percent for ovarian cancer.
“Because of our history, all the women in the family took the test; I was positive for BRCA2, but not my sister,” Laura recalls. She was 35 and a mother of one. She decided that she would undergo breast and ovarian surgery all at once: “I figured if I was going to do it, I would do it in one go; I felt it was the best form of prevention.” But she still wanted to have another child, so she waited until after having her second baby before finally going through with the surgery at the age of 38.
Isabel Chirivella is the person to whom oncologists, gynecologists, family doctors and other physicians refer suspicious cases. She is the one who suggests the possibility of genetic testing, who delivers the results, who recommends telling other members of the family and offers advice on how best to approach this. She also explains the options if the result is positive. “We recommend that the genetic analysis not be done until 20 or 25 years of age, until the person is mature enough to deal with it,” she says. “It is not easy to accept that one has a high risk of developing a malignant growth.”
But Julia and Amparo decided not to put off getting testing until the recommended age. “We did it at ages 18 and 19,” they explain. Both carry a BRCA2 mutation. In their case as well, family history suggested hereditary cancer. Their mother had breast cancer at age 32, then again at 40, and she died two years later. An aunt has had growths in both breasts.
“We were expecting to get the results we got,” they explain. Julia is a doctor, just like her father, and it came as no surprise to have inherited the mutation. Rather, it was a confirmation of what the family already suspected would be the case.
“It’s good to get tested; this way, you can react and make a decision,” adds Amparo.
Both sisters had double mastectomies at the age of 26, a procedure that eliminates practically the entire mammary gland. After reconstructive surgery, the result is esthetically similar to getting breast implants.
“We were quite certain that we wanted to get surgery; each one of us chose the best moment, and we did it,” they explain. As for their ovaries, they will wait until later, when they’ve either had children or have decided not to have them.
There are several alternatives for patients who test positive for BRCA1 or BRCA2 mutations. They can choose to get medical checkups more frequently to detect the cancer early on, if it ever develops, or they can opt for removing the breasts and/or ovaries preventively to eliminate any chance of developing the disease at all.
Chirivella’s role is to keep patients informed of all options, as well as the pros and cons associated with each choice. For instance, ovary removal in fertile women implies early menopause.
“Perhaps in the case of the ovaries, the decision is more guided by doctors because preventive control and early diagnosis are harder than with breast cancer,” she says. “But the women always have the final say.”
Personal experience plays a big role in a woman’s choice. The decisions taken by Laura and sisters Julia and Amparo were conditioned by watching their mothers die of cancer. “That was really tough,” says Julia. “We told each other that we wouldn’t go through that ourselves.”
Paqui also has a BRCA2 mutation and a family history of breast cancer. Her mother had one, although she did not die of it. “In my family, nobody has died of breast cancer,” she says. Maybe that is why she decided not to have a mastectomy, and opted for more checkups instead.
“The truth is, I’m dealing with it pretty well; I am not obsessed about the checkups, otherwise I could not go on living, thinking about cancer all day.” Paqui did, however, choose to remove her ovaries, as she already had grown children and had no plans to have any more.
Faced with the same reality, each of these women has taken a different path. They had the good luck of being able to make informed choices after having the bad luck of inheriting a high risk of cancer.