Don’t fear your cancer risk


Knowing it may save your life

By Heather Hampel

Guest Columnist

When genetic tests first emerged, they raised a tough question: Would you rather know you’re at high risk for cancer, or would you rather live life without that fear? Now, the answer is clear — genetic testing saves lives, preventing cancer before it strikes and helping match patients with treatments.

In one of the most powerful examples to date, the tests are helping people learn if they have Lynch syndrome. An inherited condition, its cause is now easy to find: differences in only four genes can partly disable DNA repair, leading to a much higher cancer risk.

Understanding Lynch Syndrome

Usually, the machinery inside a cell fixes errors as they occur. Throughout a lifetime, we all experience such repairs countless times without noticing them. When someone inherits an errant copy of a DNA repair gene, cells can’t fix all the problems that occur naturally with age. Some of those cells die and get reabsorbed into the body, but if damage impacted the cell’s normal rules for growing and dividing, the result is cancer.

Lynch syndrome affects 1 out of every 280 people, and most are unaware until they’re diagnosed with colon cancer. Throughout a lifetime, individuals with Lynch syndrome have an 80 percent, or greater, risk of developing colorectal, uterine, ovarian, stomach or another associated cancer, usually at a young age. In contrast, the general population’s lifetime risk of developing colon cancer is closer to 6 percent.

Surprisingly few people have heard of Lynch syndrome. That’s why my colleagues and I at The Ohio State University Comprehensive Cancer Center — Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC — James) received a grant from Pelotonia to create the Ohio Colorectal Cancer Prevention Initiative (OCCPI). Involving 51 hospitals in the state, we screen all newly diagnosed colon cancer patients for Lynch syndrome, and if they test positive, we screen their families

Based in large part on research conducted at the OSUCCC — James from 1999 to 2008, the Centers for Disease Control and Prevention (CDC) recommends that all newly diagnosed colorectal cancer patients be screened for Lynch syndrome. Implementation of this screening, however, has still not been universally adopted – 13,000 people could be diagnosed every year if U.S. doctors screened all newly diagnosed patients and their families.

From diagnosis to management

Our decision to target colon cancer was easy, as it’s the third most common cancer in the United States, the third most common cause of cancer death and roughly 3 percent of colorectal cancer cases result from Lynch syndrome. Plus, each colorectal cancer patient with Lynch syndrome has, on average, three relatives who also have the syndrome.

Our network of hospitals has screened nearly 2,800 patients. To date, 94 of our patients discovered they have Lynch syndrome, and 102 family members learned they have the gene mutation — well before developing any signs of cancer. In addition, 71 of our patients have a mutation in a different gene that may have contributed to their colorectal cancer diagnosis, which could also have important implications for their family members.

Too many Americans are in the dark about their risks for disease and are uninformed about how to manage those risks. Cancer is no longer a death sentence, and knowing cancer risk is no longer something to fear. Now it is up to hospitals to give patients the critical information they need to prepare for, and even prevent, cancer in their future.

For more on our research, see the clinical trial page, and for more on support for those with Lynch syndrome, visit: cancer.osu.edu/occpi.

Knowing it may save your life

Heather Hampel is the associate director, division of human genetics, at The Ohio State University Comprehensive Cancer Center, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute

Heather Hampel is the associate director, division of human genetics, at The Ohio State University Comprehensive Cancer Center, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute