Knowing your risk factors could save your life


Researching your family’s genealogy has become very popular in recent years and people are now ordering DNA kits to find out their ancestral background. But when it comes to finding out whether they carry a genetic mutation that could predispose them to cancer, people often shy away.


Genetic testing has come a long way in the two decades since the discovery of the BRCA1 and BRCA2 gene mutations. These mutations increase the likelihood of developing breast and other cancers – and knowing your risk could save your life.

To understand your risk, it is important to understand the BRCA1 and BRCA2 genes. Normal BRCA1 and BRCA2 are tumor suppressors that help prevent the development of breast cancer. Every person has two sets of BRCA1 and BRCA2, one from their mother and one from their father. Any mutation in the genes is hereditary, meaning that there isn’t anything a person did or did not do to cause the mutation. A mutated gene is passed down from generation to generation. Both men and women can carry the mutations and both can pass them on to their children.

In addition to breast cancer, BRCA mutations also increase the probability of other cancers. BRCA1 mutation carriers have an increased chance of developing ovarian cancer and melanoma, whereas BRCA2 mutation carriers have a significantly higher incidence of pancreatic cancer in both men and women and prostate cancer in men.

Ethnicity also plays a role in genetic mutations. According to the Centers for Disease Control, about one out of every 40 individuals of Ashkenazi Jewish descent has a mutation in the BRCA1 or BRCA2 gene, compared to one out of every 400 people in the general population.

But, “Not everyone who has a genetic mutation will develop cancer,” said Maureen DiPiero, education and outreach manager for the Gloria Gemma Breast Cancer Research Foundation.

“Abstaining from tobacco, eating healthfully and regular exercise can be helpful in reducing the risk of a cancer diagnosis,” she said.

Since the first BRCA gene-mutation test was created in 1996, scientists have discovered 180 genetic mutations related to breast cancer. Testing has also improved. Myriad Genetic Laboratories developed the first BRCA mutation testing, and its testing methods continue to advance as new research unfolds. The lab has partnered with the Gloria Gemma Foundation to help educate the public about genetic mutations and testing.

“People who were previously tested for a single syndrome, such as Hereditary Breast and Ovarian Cancer and Lynch Syndromes, can have the myRisk® testing to be tested for additional genes known to be related to other hereditary cancer risks,” said Julie Powers, oncology product specialist at Myriad.

Myriad has also developed a questionnaire that people can take online, at, to find out their risk of having a gene mutation.

“Everyone should take the quiz,” said Powers. “In about a minute, someone will know whether or not [he or she] should have further evaluation for a gene mutation.”

Powers wants people to know that just because the quiz may suggest further evaluation, it does not mean there is a genetic mutation. She encourages people who take the quiz to discuss the results with their doctors.

Knowing your family’s bloodline is a great way to learn about your ancestry, but knowing your family’s medical history and whether you are predisposed to a genetic mutation could save your life.

CAROL ANN DONNELLY is communications manager at the Gloria Gemma Breast Cancer Resource Foundation.