Should women try gene testing at time of breast cancer diagnosis?

Published 12:00 am Tuesday, April 20, 2004

Associated Press medical writer

Jeannine Salamone was just 30 when genetic testing made her abandon hope that removing the aggressive tumor growing in one breast would be treatment enough. She switched to a double mastectomy.

&uot;Granted, that was a tough decision,” she says. &uot;It was pretty clear to me I didn’t want to go through the rest of my life worried about another breast cancer.”

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Salamone was unusual: Few women today are offered genetic testing soon after a diagnosis of breast cancer. More often, they recover from the first tumor and then decide whether to learn if they’re at risk for additional cancer fueled by the notorious BRCA genes.

Dr. Howard H. Harris, a staff surgeon at Obici Hospital in Suffolk, explained: &uot;There are two genes that indicate or help show a woman’s predisposition to breast cancer – BRCA 1 (BRCA stands for breast cancer) and BRCA 2.&uot;

&uot;The presence of those genetic mutations shows that those patients are at increased risk of breast cancer.&uot;

Testing can take two months; most patients don’t want to delay treatment. And doctors have feared overwhelming patients with such a complex topic at an already traumatic time. But new rapid testing can speed results in just 10 days – and now a study evaluating that option among the newly diagnosed shows learning gene status does affect women’s treatment choices.

Has Dr. Harris used genetic testing?

&uot;We have on occasion; it’s not readily available and it requires an amount of interpretation and counseling,&uot; he said.

Drawing blood and examining it is all that’s physically required for the genetic screening, Dr. Harris said. Nonetheless, he confirmed, &uot;this is still pretty involved testing,&uot; adding that a group of people will take a history of a cancer patient to see if there are other family members who have had breast cancer, for example.

&uot;What’s happened it that women have become better informed. They’ve become aware that some breast cancer has some familial association. Breast, ovarian and colon cancers tend to associate themselves together and often tend to run in the same families.

He said, &uot;five to 10 percent of all breast cancer in patients is hereditable.

&uot;The question is, do they fall in the category of a patient that has a predisposition to breast cancer, and how can they use that information to benefit themselves?

&uot;So I think that most women are using that in two different ways: a mother or sister with breast cancer can use genetic screening as a way to help determine if they fall into a greater-than-normal risk category. You might have a mother with breast cancer concerned with sisters or daughters.&uot;

Women who harbored a BRCA mutation were twice as likely as noncarriers to choose double mastectomy, says research published this month in the Journal of Clinical Oncology.

It’s a much more aggressive operation than the breast-sparing surgery many of these women could have considered for their current tumors. But it greatly reduces the risk of later cancer in the other breast.

Moreover, it’s a decision the women eventually would have faced had they undergone later gene testing, which means earlier testing potentially can reduce the number of trips to the operating room.

So the Georgetown University researchers are recommending that oncologists ensure the newly diagnosed know that gene testing is an option and help those who want it to get the necessary genetic counseling quickly.

The recommendation will be hard to follow, cautions Dr. Mary Daly of Philadelphia’s Fox Chase Cancer Center.

Rapid BRCA testing can cost over $4,000, more than the usual $2,900 bill for slower testing. Insurance usually covers the routine slow test for appropriate candidates, but rarely pays for the rapid version. So rapid testing is rare outside of studies, like Georgetown’s, that offer it without charge.

Also, genetic counselors still are uncommon on oncology teams, and many surgeons consider preventive mastectomies very contentious.

But because BRCA mutations bring up to a 60 percent risk of later cancer in the other breast, learning gene status and taking protective steps might save people’s lives, Daly says, urging oncologists to work to overcome testing barriers.

&uot;With some clinical judgment, with a lot of support, some women should be able to handle this” decision on top of a cancer diagnosis, she adds. &uot;It’s perhaps a little paternalistic to suggest they can’t.”

Some 211,000 American women will be diagnosed with breast cancer this year.

Women who inherit mutations in the BRCA1 or BRCA2 genes are three to seven times more likely than average women to get breast cancer. They’re also at greatly increased risk of ovarian cancer.

Top candidates for BRCA testing have several first-degree relatives who’ve had cancer or who contracted their cancers at unusually early ages.

Georgetown’s questions: Do women want gene testing amid the trauma of a cancer diagnosis? Aside from understanding the science, a positive test means the woman’s mother, sisters or daughters could have the risk, too.

If they do want testing, what do the newly diagnosed do with the information? Treating the initial tumor is no different; the quandary is how to reduce the risk of later cancer in the other breast.

&uot;Most of us (physicians) feel comfortable with the surveillance option – which is earlier and more frequent screenings,&uot; said Dr. Harris. &uot;We might say, for example, many women undergo screening mammography beginning at ages 40 to 50. These high-risk patients might be candidates for screening beginning some 15 years earlier perhaps – ages 25 to 35.

Options: Removing the ovaries cuts a premenopausal BRCA carrier’s risk of breast cancer as well as ovarian cancer. The anti-cancer drug tamoxifen helps some women. They can get frequent cancer screening. Or they can remove both breasts.

&uot;While it has some proponents,&uot; Dr. Harris said, &uot;prophylactic mastectomy remains controversial.&uot;

Georgetown studied 194 newly diagnosed cancer patients referred for BRCA testing who had not undergone definitive treatment for the first tumor.

A surprising 48 percent of those who tested BRCA positive chose preventive double mastectomy.

So did 24 percent of women in whom no mutation was detected, patients whose doctors had urged removing both breasts or who weren’t reassured because cancer runs in their families. After all, presumably there are breast cancer genes yet to be discovered.

The researchers didn’t urge a mastectomy, stresses co-author and oncologist Dr. Claudine Isaacs.

&uot;For some women it’s the right choice,” she said, &uot;and for others it’s not the choice they want to make then but to revisit down the road.”

Suffolk News-Herald Managing Editor contributed to this story. He can be contacted at 934-9613 or via e-mail: