Breast cancer was scattered throughout almost every branch of the maternal side of Jaclyn Jensen’s family tree, and she always feared she was at risk of getting the disease.
Jensen, a 24-year-old Salt Lake City, Utah native who now lives in Chicago, has lost several family members to breast cancer. Her maternal grandmother and two great aunts died of breast cancer. Her mother’s two sisters both got the disease, too, but only one survived.
About four years ago, an opportunity arose for Jensen and her family to participate in a study at the Huntsman Cancer Institute in Salt Lake City, Utah, where they were tested to see if breast cancer was actually in their genes-and it was.
Of the estimated 192,000 American women who will be diagnosed with breast cancer this year, about 5 to 10 percent of them will have a hereditary form of cancer that is linked to a mutation of certain genes, known as BRCA1 (breast cancer 1) and BRCA2 (breast cancer 2), according to the National Cancer Institute.
These gene mutations were first discovered in the mid-1990s by scientists from the National Institutes of Health. Since then, testing for these gene mutations has become increasingly popular.
Earlier this month, the state of Illinois announced that BRCA gene testing, which costs more than $3,000, will now be covered for Medicaid patients who are considered at high risk for breast cancer.
Women who carry the BRCA1 or BRCA2 mutation are up to seven times more likely to develop breast cancer in their lifetime than women who do not have a BRCA gene mutation.
BRCA genes are also associated with increased risk for ovarian cancer, said Christina Seelaus, a genetic counselor at Stroger Hospital of Cook County.
“For ovarian cancer, the general population risk is about 2 percent,” Seelaus said. “And then that risk increases to about 27 percent for BRCA2 [carriers] and 54 percent for BRCA1 [carriers].”
When functioning normally, these genes help to repair cells, said Dr. Virginia Kaklamani, an assistant professor of hematology and oncology at Northwestern University.
“So if those genes don’t work well because they are mutated, then the cell can’t repair itself and can become a cancer cell.”
Jensen, who was 20 years old at the time of the test, found out that she does have the BRCA2 gene mutation. Her mother, who has never had cancer, tested positive as well, along with her aunt, who is a breast cancer survivor. Jensen’s sister, however, tested negative for the gene mutation.
BRCA genes are rare among the general population, Kaklamani said, with only one in 500 people carrying either BRCA1 or BRCA2. But if a parent carries the gene mutation, their children have a 50 percent chance of inheriting it.
Seelaus said there are certain “red flags” that people can look for in their family history that might be a sign of hereditary cancer.
Some of the potential warning signs that might warrant a BRCA gene test are having multiple relatives affected by breast cancer or ovarian cancer and/or family members who are diagnosed under the age of 40, Seelaus said.
“In general, I think it is important for people to know about their health history and to schedule an appointment [with a genetic counselor] if there is a lot of cancer in your family and you are concerned about your own risk,” Seelaus said.
Cynthia Gerstner, Ph.D., a professor of biology at Columbia and a breast cancer survivor, said when multiple people within a family are diagnosed with cancer at a young age, it would be wise for members of that family to see a genetic counselor and consider getting some kind of testing.
Sometimes the lack of a family history can be misleading, though. There was no history of breast cancer in Gerstner’s family, she said, but her father had only brothers.
People should be cautious of a situation like that, Gerstner said, where there are few women on one side of the family. Men can also carry BRCA genes and pass them on to their daughters but they are far less likely to get breast cancer than women.
“Cancer is usually an older person’s disease,” Gerstner said. “It is usually the accumulation of mutations, but if you are born with a mutation, that can set the stage for faster cancers to develop.”
Making the decision to get the BRCA gene testing came easy to Jensen, she said. She always knew that she was at high risk for breast cancer anyway, because of her family history. She said she figured if she had the gene or not, it would be better to know for sure what was going on or that maybe she would find out she didn’t carry the gene after all.
“It was something that I knew I would be able to handle,” Jensen said.
After learning that she did have the BRCA2 gene mutation, Jensen said she didn’t make any decisions right away.
“At first I just kind of put it aside because I was still in college and it was pretty heavy information,” Jensen said. “I thought ‘Oh my gosh, I can’t deal with this right now. I need to finish school and focus on what I’m doing right now.'”
If a woman tests positive for either of the BRCA gene mutations, there are several different options available to them as far as reducing their risk for developing cancer, Seelaus said. Women can choose to have preventative mastectomies, in which healthy breast tissue is removed, or they can choose to increase their screenings and have regular MRIs and mammograms.
After graduation, Jensen started to think about it again and started to consider her options.
“I’m still kind of in the decision making process,” Jensen said. “At this point I’m just doing my monthly breast exams, and I’m working on getting into a program where I can get [regular] mammograms and MRIs so that I can have really strong, aggressive surveillance.”
In Jensen’s family, breast cancer tends to strike in the mid – to late 30s, so she said in a few years when she is closer to 30 years old, she will probably have a preventative mastectomy followed by reconstructive surgery.
Overall, Jensen said that she getting the BRCA testing turned out to be an “amazing gift” for her family, even though some of them turned out to have the potentially cancer-causing gene mutation.
“It’s good for me because now I know what my options are as far [prevention] and surgery,” Jensen said. “I just think the more you know the better choices you can make.”