BREAST CANCER GENE FLAW KNOWING WAS A BLESSING
Ottawa woman educating public about genetics and breast cancer
Lianne Degen was 23 when, after receiving a letter from a distant relative, she got tested and found out she had the BRCA 2 gene mutation, giving her an 87-per-cent chance of developing breast cancer and a 50-per-cent chance of ovarian cancer. She had a double mastectomy, and now lets others know what to expect and consider.
Lianne Degen was just 23 years old when her world was turned upside-down. At least that’s how most people would describe learning that they carried a genetic mutation that gave them an 87 per cent chance of developing breast cancer and a 50 per cent chance of ovarian cancer.
Degen prefers to call it a blessing.
The mutation she carries is similar to one that actress Angelina Jolie has. But, unlike Jolie, who made international headlines last spring when she revealed that she had undergone a double mastectomy after learning she carried the BRCA 1 mutation, Degen did not grow up under the shadow of breast cancer.
Jolie, in a piece that ran in the New York Times last May, talked about watching her mother battle and die, at age 56, from breast cancer. It motivated the actress to undergo genetic testing and have preventive surgery.
Neither Degen’s mother nor any aunts had breast or ovarian cancer — the usual flags that the mutation may exist in a family. But Degen’s paternal grandmother did. And when Degen was 23, she received a letter from one of her father’s cousins saying the BRCA 2 gene mutation existed in the family.
Degen wasted no time before going to see a genetic counsellor, then deciding to get tested. She learned that she, too, had the genetic mutation.
Degen, now 34, says the letter that led to her genetic counselling and testing was a blessing.
“If I was not aware of my BRCA 2 mutation, I would live my life being blissfully unaware that there was an 87 per cent chance that this monster (breast cancer) would get me, probably at an age that I was not expecting it,” she wrote in her blog.
Degen initially chose to forgo surgery and to be closely monitored for breast cancer. But after a scare that left her waiting for biopsy results and worrying, she decided she no longer wanted the uncertainty and opted for a preventive mastectomy and breast reconstruction surgery, procedures she blogged about (http://lianne-brca2.livejournal. and talked about to whoever would listen.
Degen is quick to say that the information and what to do with it should be considered carefully. Looking back, she says, “23 was a little bit young” to deal with the information.
“It is one thing to know you have a history of cancer in your family and quite another to know you carry this mutation,” she said. “Which is why meeting with a genetic counsellor is such an invaluable tool, because they can explain those issues that may arise when you do get genetic testing.”
And not everyone chooses to know whether they carry the gene mutation. Degen said she knows people who have opted not to do the testing after going for counselling.
Mireille Clouthier, a genetic counsellor who works at CHEO’s genetic clinic, calls Degen “Ottawa’s Angelina Jolie.” Like Jolie, Degen has also been open about the testing and eventual surgery to remove her breasts, in the hopes that others will have more information about what to expect and what to consider if they face the same decisions.
And Clouthier said the message is “know your family history” when it comes to risk of breast cancer and other hereditary illnesses. A family history of breast cancer, she notes, might not always be obvious. In Degen’s case, the gene mutation was passed through the paternal side and her father came from a family of all brothers. “People often ignore the paternal side” when considering their cancer risk, she said.
But, because of a connection from a cousin, Degen learned about her own risks. After surgery, her risk of getting breast cancer is reduced to five per cent — well below average, and Degen said she is pleased Jolie has drawn more attention to the issue.
“I was very happy to see that she was so open about the procedure ... Most of the time no one has ever heard about it. Now, I don’t have to explain myself anymore.”
Jolie’s story has resulted in more people seeking genetic counselling and testing, although the gene mutation that puts both Degen and Jolie at high risk for breast and ovarian cancer is relatively uncommon. Between five and 10 per cent of breast cancer is hereditary.
Clouthier said a family history of breast and ovarian cancer and at a relatively young age can be red flags hereditary cancer exists in a family. “You want these families to come forward so a diagnosis can be made.” But the vast majority of cancers, she said, are not hereditary.
Willow Breast Cancer Support Canada provides information and support for those with questions about hereditary breast and ovarian cancer at inourgenes.ca
As far as Degen is concerned, the more information, the better.
She has had emails from all over the world thanking her for the information she has put out on the blog about her own experience.
“I decided I am going to put my story out there and hopefully other people will find it and take encouragement.”