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
UNCOVERING CANCER-CAUSING GENES
“Had I known, I would have been able to be proactive and start getting colonoscopies very young.” 
SUSAN MCDEVITT, of her genetic predisposition to colon cancer. - PHOTO BY: ANGELA CHICOSKI
“Had I known, I would have been able to be proactive and start getting colonoscopies very young.” SUSAN MCDEVITT, of her genetic predisposition to colon cancer. - PHOTO BY: ANGELA CHICOSKI
Lynch syndrome is one of the most complex genetic disorders because of the number of genes involved — MLH1, MSH2, MSH6, PMS2 and/or EPCAM. All these genes are involved in the process of DNA repair — an essential function, because the human genome is constantly at risk for mistakes in division, or DNA damage, that is repaired through several elaborate mechanisms. Mutations in each gene may infer a different risk, and this may also vary between families due to the effects of other genes. For example, people found to have mutations in the genes MLH1 and MSH2 face a lifetime risk of developing colon cancer that’s between 52 and 82 percent, compared with 4.8 percent for the general population, according to a section of the book “GeneReview,” posted online in 2004 by the National Center for Biotechnology Information. Women who have a mutation in those genes or in MSH6 also have a 25 to 60 percent lifetime risk of developing endometrial cancer, according the same resource.

As scientists learn more about Lynch syndrome, they’re realizing it’s more common than they initially believed. “Years ago it was called ‘rare,’ but now the estimate is that one out of every 279 people has it,” says Susan McDevitt, executive director of Lynch Syndrome International, a Madison, Connecticutbased organization that provides information and support to people diagnosed with the condition. McDevitt tested positive for the MSH2 mutation after surviving colon cancer in 2011. She opted for a hysterectomy. Now 50, McDevitt says she believes that she could have prevented her colon cancer if she had learned about her Lynch status earlier. “Had I known, I would have been able to be proactive and started getting colonoscopies very young,” she says.

Indeed, a benefit of knowing about a genetic predisposition to cancer is the chance to opt for earlier and more frequent surveillance than what is generally recommended, which will boost the chances of finding tumors in their earliest stages, when they can often be cured with surgery. For instance, the five-year survival rate for colon cancer diagnosed in stage 1 is about 92 percent. That rate drops to 11 percent in stage 4, when the cancer has already spread, according to the American Cancer Society.



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