News from Illinois CancerCare

Would You Have Surgery to Prevent Cancer?

PEORIA — The last thing one would associate with the petite, vivacious woman with dark hair and twinkling eyes is a life-threatening disease.

And the fact is, Catherine D’Souza is a healthy woman – today.

But there is a sword hanging over her head because recently she tested positive for the gene mutation that causes both breast and ovarian cancer. This means she has up to an 80 percent chance of developing breast cancer and about a 30 percent risk for developing ovarian cancer.

Faced with this information, what would you do?

D’Souza has decided to undergo both a mastectomy and an oophorectomy to remove her ovaries in a preventive strike to drastically cut her risks.

“This is about risks and what a person is willing to live with,” D’Souza said. “Even a 30 percent chance of getting cancer to me is too high because I do not ever want to be treated for cancer. Chemo itself can kill. Once you get cancer, you are always afraid of getting it again, and that’s just breast (cancer). Most ovarian cancer patients die within five years. My dad has always said, ‘If it happens to you, it’s 100 percent.’ ”

D’Souza is proof that breast cancer genes are not only passed on by women. Men are equally culpable. Her paternal grandmother, who died of breast cancer at age 44, is one of three sisters who died of breast cancer before age 60.

In the next few months she will have the surgeries so that she does not have to deal with chemotherapy and radiation which are standard fare for treating cancer.

“I’m afraid that if I had cancer I could die, and my kids would have to grow up without me,” said D’ Souza, who with her husband, Nirain, have four children, ranging in age from 1 to 9.

Although she has always known her family history, the push to get tested became stronger as D’Souza turns 39 next month and fears that the next decade for her may be cancer-stricken.

“It’s all about playing the odds, like Russian roulette,” she said. “There are no guarantees about the outcome.”

Her family members, who may have inherited the same genes, have reservations about genetic testing, because knowing would mean having to act, or not, which is a decision in itself. She thought her two brothers and cousins who are descendents of the grandmother and grand-aunts who died of breast cancer would jump at the opportunity to learn their own risk.

“If you can test for high risk, wouldn’t you be relieved to know where you stand, especially if you had always known you were at high risk?” she said.

Apparently not everyone wants to know.

“The women in my family don’t want to test because they’re afraid they’ll wake up the next day with cancer,” D’Souza said. “I was hoping my family would test so they would understand what I was going through or that they would appreciate learning about this test.”

About BRCA

As the American Cancer Society explains it, breast cancer genes, or BRCA1 and BRCA2, are DNA repair genes that can be passed on down the bloodline. The problem occurs when they are mutated and lose their ability to repair tumor suppressor genes. Thus cancer is more likely to develop.

Mutated genes may account for up to 10 percent of all breast cancers. Women with mutated BRCA1 genes have a 46 percent to 80 percent chance of developing breast cancer and about 30 percent to 60 percent risk of developing ovarian cancer.

For the general population, the risk is about 12 percent for developing breast cancer and about 2 percent for ovarian cancer.

As D’Souza, who is a BRCA1, has shown, the mutation can affect men, too. Men with a BRCA2 mutation have a 1 in 14 risk of developing breast cancer, about 80 times higher than the risk for men in the general population without the BRCA2 mutation.

For these men, there is an above average chance of contracting other cancers – pancreatic, stomach and prostate cancers. The children of anyone with mutative cancer genes have a 50-50 chance of inheriting it.

Effect on family

What Catherine D’Souza does with the results of her genetic tests affects the whole family. Nirain D’Souza stands staunchly behind his wife’s decision. As a physician himself, he understands the problem only too clearly, but that doesn’t make the choices or the decisions any easier.

“I think it’s a lot to contemplate when you’re not actually sick,” Nirain D’Souza said. “How do you go around explaining you’re not sick, but have the potential to prevent that?”

“As a physician, you’re treating people all the time, but this is a little different,” said the orthopedic surgeon. “I’m very proud that she was brave enough to get herself tested, but it’s not easy.”

Did he ever consider the pending surgery to be a little drastic?

“I never thought it was not necessary,” D’Souza said. “But it has to be her decision.”

Even after prophylactic mastectomy, there is still a chance Catherine could contract breast cancer.

“It’s not zero, but your risk goes down substantially,” Nirain D’Souza said.

For now he says it’s easier to focus on the mundane: “When is the surgery going to take place; who’s going to do it; who will look after the kids; who will look after Cathy. While all this is going on I still have to work; life goes on.”

Genetic testing is covered by insurance which Nirain D’Souza says shows they themselves recognize what a tremendous risk it is for genes with mutations.

“The cold reality is it is far more cost effective for treatment before than after,” he said.

The federal government recently passed the Genetic Information Nondiscrimination Act which takes effect in 2009.

“This means you can’t be discriminated against or denied health care if you test positive,” he said.


Although Catherine D’Souza is now a stay-at-home mother, her situation has been intellectually stimulating, and she is hungry for more knowledge and information on the disease and its variations: what kinds of tests are available locally or elsewhere.

Before becoming a full-time mother, she was a researcher and medical writer.

“It is really interesting for me to study the magnitude of genetic mutations,” she said.

If she stops to think about herself, Catherine D’Souza is terrified, so perhaps starting a movement that will help others explore the status of the DNA they’ve inherited is one way of coping. She has formed the local chapter of Facing Our Risk of Cancer Empowered, or FORCE, a national organization that helps others in a similar situation make educated choices.

“Since no one in my family has tested, there is no one else for me to talk to,” she said. “This is just a sanity-saver to identify with others in the same situation. Other than online, I’ve yet to meet someone who has my problem.”

The surgeries will probably take place after the new year – the mastectomy and breast reconstruction will have to heal completely before the oophorectomy. Although the initial burden of making a decision has been lifted, the reality may be more complex. Even after Catherine has healed from both surgeries, there is still the gut-wrenching problem, which Nirain D’Souza voiced: “When do we tell our children – we have three girls – that they, too, may be in the same situation?”

Catharine Schaidle can be reached at 686-3290 or