All in the Family: Discussing Screenings and Preventative Surgery for Inherited Cancers


Screening and preventative surgery are common strategies for those with inherited predispositions to cancer.
BY ARLENE WEINTRAUB
PUBLISHED: APRIL 17, 2017
When Kerri Murphy was 32, she underwent genetic testing for Lynch syndrome — a hereditary disorder that’s caused by a mutation in any of five genes that predisposes those who have it to several cancers. Her sister had tested positive for Lynch syndrome, and because they had lost their father to colon cancer, Murphy thought she should know if she had a predisposition to the disease, too.

“My father passed away from colon cancer at 48,” says Murphy, who lives in Rhode Island. “His mom had colon cancer, and a number of her siblings had it.”

So, Murphy wasn’t entirely surprised in 2012 when genetic testing revealed that she had Lynch syndrome. During discussions with a genetic counselor, Murphy learned she might face an increased risk not just of colon cancer, but also of cancers of the stomach, pancreas, kidneys, brain, uterus, skin and other sites. Because the gene mutation meant Murphy faced a high risk of developing endometrial or ovarian cancer, she opted to have a hysterectomy. In addition, Murphy, who is married with one son, undergoes a colonoscopy and skin exam every year, as well as an endoscopy to check her stomach every few years. So far, no cancers have been found.

“It’s a scary thing, but I feel fortunate that I know,” says Murphy, 38, who calls herself a “previvor.” “Knowing has quite possibly saved my life.”

Lynch syndrome is one of more than 50 genetic conditions that raise the risk of developing cancer, according to the National Cancer Institute. That list of hereditary cancer syndromes is growing rapidly as geneticists discover more gene mutations and link them to familial patterns of cancer diagnosis. At the same time, the cost of genetic testing is decreasing, running in the hundreds rather than thousands of dollars, making it feasible for healthy people to seek out testing and then pursue active surveillance plans — frequent colonoscopies or preventive surgeries, for example — if they are found to be at high risk.

“We know that all of these syndromes impact both men and women, and they can all be passed down to sons and daughters,” says Ellen Matloff, M.S., a certified genetic counselor and CEO of My Gene Counsel. “And they can increase the risk of several types of cancer.”

Inherited cancers are caused by mutations, or abnormalities, in genes, and account for about 5 to 10 percent of all cancer diagnoses, according to the American Cancer Society. Colorectal, breast and ovarian are the cancers most commonly linked to inherited gene mutations.

There are a few important factors that geneticists look for when deciding whether a healthy person, who has no personal history of cancer, should be screened for cancer-causing genes, and those are mostly related to family history. For example, if several family members have been diagnosed with kidney or specific types of cancers that seem to fit one of the hereditary syndromes, or if any relatives developed a disease such as breast or colon cancer before turning 50, you might be a good candidate for testing. Genetic counselors are particularly concerned about cancer in close relatives, such as parents or siblings. However, cancer in more distant relatives can also be important.



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