When BRCA2 is working, it repairs DNA damage in cells. The mutated version of the gene, however, can’t do the repair job properly. The resulting cellular damage can lead to multiple cancers, including breast, ovarian and pancreatic cancer, as well as a particularly aggressive prostate cancer.

What’s more, BRCA2 doesn’t discriminate among genders; everyone has the gene. It was becoming clearer that the cancers in the Mallard family — both breast and prostate — could be related. This relationship was confirmed by Steve’s test results: Like his niece Keri, Steve had a mutated form of BRCA2.

As it happens, Steve was tested at a pivotal time in prostate cancer care. Not long before, UW Medicine researcher Colin Pritchard, PhD ’05, MD ’07, and his colleagues published a study in the New England Journal of Medicine that brought to light a connection between some men with metastatic prostate cancer and BRCA2.

Steve’s new oncologist, UW Medicine researcher Heather Cheng, PhD ’05, MD ’07, realized the implications for Steve’s case immediately. Knowing that Steve had the mutated form of BRCA2, Cheng saw a potential new avenue for treatment: Carboplatin, a drug that takes advantage of the specific weaknesses of cancers with the mutated form of BRCA2.

“Essentially, Steve was the first person who had their treatment changed because of our knowledge about BRCA2 mutations and men with metastatic prostate cancer,” says Cheng.

The drug worked something close to a miracle: Steve abandoned his wheelchair, returning to the golf course and visits with his grandchildren. He left behind the pain of cancer and the haze of painkillers. In the two months before he died — in his sleep — Steve regained his quality of life.

“He sent me a Facebook message saying, ‘Thank you. You saved my life,’ remembers Keri. She wrote him back, saying, “I didn’t save your life. I gave you some information.”

Since genetic tests can affect the treatments a doctor prescribes, Steve’s case brings up at least one pressing question: Why didn’t Steve’s doctor ask him to get tested when he was first diagnosed?

In Steve’s case, it was partially a matter of timing. Colin Pritchard’s research helped set a nationwide medical standard, established by the National Comprehensive Cancer Network. Although the standard recommends that all men with metastatic prostate cancer receive a genetic test, the recommendation did not exist in 2011, when Steve was diagnosed. (And when he was first diagnosed, Steve didn’t have the metastatic form of the disease.)

More generally, there’s a lack of information.

“The importance of a family history of breast cancer in men’s healthcare is not well-recognized,” says Liz Swisher, MD, Res. ’93, a gynecologic oncologist and surgeon at UW Medicine.

There’s another question, too: Why isn’t everyone tested for BRCA2 and other cancer-causing mutations? The answer is: Someday, we might.

As genetic testing grows ever more powerful, researchers like UW Medicine faculty Mary-Claire King, PhD, who discovered the BRCA1 gene, support the idea of population testing for cancers such as breast cancer. If this recommendation were approved, all women of a certain age would automatically receive genetic screening for several common, actionable mutations. Although this is not yet a recommendation in the U.S., notes Swisher, the U.K.’s National Health Service is testing the concept.

Of course, if doctors spot a family history of cancer during an appointment, they may recommend a genetic test. Still, Swisher is quick to point out that family histories are not reliable.

“If we rely on family history, we know that we miss a third of patients, because they’re just as likely to inherit BRCA1 or BRCA2 from their father,” Swisher says. “So there may be no family history of breast or ovarian cancer.” Then, too, it can be harder to spot a cancer trail in a small family.

Asking a patient for a full history of all the family cancers (breast and prostate, as well as pancreatic, ovarian and melanoma) can help paint a better picture.

That said, a medical-grade genetic test is the only way to be sure of a genetic mutation. Even then, there’s no guarantee that a patient asked to get that test will follow through.

After learning about the family gene, Stephanie hesitated to take the test for several months, afraid of receiving the same death sentence given her grandmother and aunt. Eventually, with encouragement from her father’s oncologist, Heather Cheng, Stephanie took the plunge. Then she got the call.

“I knew by the number that it was the genetic counselor calling… she told me as lightly as possible, so as not to scare me,” says Stephanie. “I said ‘thank you’ and promptly burst into tears.”

Lorraine Naylor, MS, is the certified genetic counselor who made that call. After the two women spoke on the phone, they had a follow-up visit to discuss Stephanie’s medical choices.

Genetic counselors — like those in UW Medicine’s Division of Medical Genetics and at Seattle Cancer Care Alliance (SCCA) — counsel patients, take family histories, and explain the process of genetic testing. They can even enroll patients in clinical trials.

Still, despite all the tools that Naylor and her colleagues at the SCCA offer, she knows that people aren’t always ready for genetic information. Some of her patients are overwhelmed by a new cancer diagnosis. Some cancer patients don’t have any family members and see no need for a genetic test. Others just need some time.

“I’ve had patients call me two years later and say, ‘Ok, I’m ready now, let’s do it,” Naylor says.

The weight of knowing you’re at risk from disease is something that Cheng has often considered, especially with regard to her patients’ children. Young people who are healthy today — but might not be later on.

“When you take somebody who is otherwise healthy, and they’re 20 years old, and you give them information about their risk of cancer, that’s something that can potentially cause harm. You may be giving them a burden,” Cheng says.

You’re giving them the burden of choice.