Bumpy lips? For one 32-year-old woman, this condition led doctors to discover a rare gene mutation that gave her an 85% chance of developing breast cancer. Further tests proved the woman did have breast cancer — estrogen receptor-positive invasive ductal carcinoma — which forms in the milk ducts.
The story of the benign lip bumps — known as oral mucosal papillomas — appeared in a recent New England Journal of Medicine report that did not identify the woman. But doctors say the bumps indicate a mutation in PTEN gene, which prevents it from producing a protein that regulates the proliferation of cells. Without it, cells divide uncontrolled, fueling the growth of cancerous tumors.
Read MorePeople who carry this gene mutation typically develop the telltale tumor-like symptoms in their twenties and may see cancers emerge in their thirties and forties.
Genes and Cancer
Researchers estimate that roughly 5-10 percent of all cancers have a known genetic element. So while our DNA tells part of our story, it doesn't write the entire script. External factors, like environmental toxins, and lifestyle choices also influence our risk of developing cancer.
According to the National Cancer Institute, clinical-grade genetic testing can analyze a person’s risk of 50 different types of cancer.
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"Since the 1990s when we started testing for BRCA1, BRCA2 and TP53, the number of genes we can identify has expanded. And it will only continue to grow," Dr. Banu Arun, co-medical director of the Clinical Cancer Genetics Program at MD Anderson Cancer Center, tells SurvivorNet.
Rachel Webster, a genetic counselor at MD Anderson Cancer Center, says that those who have a close relative who inherited an increased cancer risk may want to consider testing.
Dr. Arun notes that clinical genetic tests can help patients and their doctors make informed decisions about cancer-screening and treatment.
While direct-to-consumer genetic tests have been on the market for some time, Dr. Arun advises, when “trying to understand your hereditary cancer risk," says Dr. Arun, "clinical testing is the way to go."
Genetic Testing and Cancer Risk
Curious whether your genetic blueprint reveals a higher risk of developing cancer? Look for a certified genetic counselor to learn about your options, Megan Frone, board certified genetic counselor in the Clinical Genetics Branch at the National Cancer Institute, tells SurvivorNet.
"In this type of consult, they'll look at personal medical history and family medical history. And, if you're female, they'll look at your hormonal risk factors," Frone explains. "There are computer models to identify risks and patterns within someone's personal and family history."
The next step, she says, is to discuss what needs to be done to test for hereditary cancers. "People need to go into it understanding that genetic testing is really complicated," Frone says. "To achieve the full value, we've got to apply the genetic test results in the context of their family health history and other risk factors to understand final risk.”
Talk to Your Family
Rachel Webster, a genetic counselor at MD Anderson Cancer Center, says that those who have a close relative who inherited an increased cancer risk may want to consider testing. “If somebody in your family is found to have a genetic predisposition to cancer, whether it be breast cancer or any other type of cancer, the first step is to start testing relatives most closely related to you,” Webster says.
“Those relatives might be brothers, sisters, parents children. Those first degree relatives are the ones that are at the highest probability of having that same genetic predisposition.”
Webster explains that her job is to figure out what type of genetic testing may be most useful for the person she is meeting with and their family members. However, genetic counselors are not always easily accessible. “You may find them in your larger cities or at major medical centers,” Webster says. “They are popping up in more and more community hospitals across the country.”
For those who do not have access to a medical center or hospital that offers genetic counseling services, tele-health counseling may be available. If you’re considering meeting with a genetic counselor and are unsure where to find one, the National Society of Genetic Counselors has resources on its website for locating a counselor.
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